Published in Clin Dysmorphol on October 01, 2000
FGF-16 is required for embryonic heart development. Biochem Biophys Res Commun (2008) 1.08
Acro-cardio-facial syndrome. Orphanet J Rare Dis (2010) 0.83
Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome. Am J Med Genet A (2014) 0.79
SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM? Rev Paul Pediatr (2017) 0.75
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet (1999) 2.57
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet (2000) 2.53
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet (2000) 2.39
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. Clin Dysmorphol (2001) 1.64
Postaxial acrofacial dysostosis: report on two patients. Am J Med Genet (1992) 1.62
Ectrodactyly, cleft lip/palate syndrome. Am J Med Genet (1991) 1.54
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat (2000) 1.51
Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child. Am J Med Genet A (2009) 1.39
EEC syndrome: report on 20 new patients, clinical and genetic considerations. Am J Med Genet (1990) 1.36
TBX22 mutations are a frequent cause of cleft palate. J Med Genet (2004) 1.30
Craniofrontonasal syndrome: study of 41 patients. Am J Med Genet (1996) 1.10
Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. Am J Med Genet (1992) 1.09
Brief clinical report: duplication of distal 17q: report of an observation. Am J Med Genet (1984) 1.03
Brief clinical report: syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family. Am J Med Genet (1983) 0.98
Aarskog syndrome in a Brazilian boy born to consanguineous parents. Am J Med Genet (1992) 0.96
Hypertelorism: interorbital growth, measurements, and pathogenetic considerations. Int J Oral Maxillofac Surg (1995) 0.94
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clin Genet (2002) 0.94
Acheiropodia: report on four new Brazilian patients. Am J Med Genet (1990) 0.94
Frontonasal dysplasia: analysis of 21 cases and literature review. Int J Oral Maxillofac Surg (1996) 0.93
Deletion of the short arm of chromosome 20. Clin Genet (1987) 0.91
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. Am J Med Genet (1990) 0.91
Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? Am J Med Genet (1997) 0.91
Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg. Am J Med Genet (1983) 0.89
Partial monosomy 13 and 21 due to a familial 13/21 translocation. Hum Genet (1978) 0.86
Autosomal dominant late adult spinal muscular atrophy, type Finkel. Am J Med Genet (1981) 0.86
Urinary tract involvement in EEC syndrome: a clinical study in 25 Brazilian patients. Am J Med Genet (1992) 0.86
Variable expressivity of the acheiropodia gene. Am J Med Genet (1983) 0.85
Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. Am J Med Genet (1992) 0.84
Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases. Clin Dysmorphol (2000) 0.83
Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2. Mol Syndromol (2013) 0.83
A study of familial stuttering. Am J Med Genet A (2006) 0.83
Acrocallosal syndrome: report of a Brazilian girl. Am J Med Genet (1992) 0.82
Pai syndrome: report of seven South American patients. Am J Med Genet A (2007) 0.82
Tetrasomy 18p: tentative delineation of a syndrome. J Med Genet (1983) 0.82
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. J Med Genet (1998) 0.81
Clinical findings in patients with GLI2 mutations--phenotypic variability. Clin Genet (2011) 0.81
Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients. Am J Med Genet (1992) 0.80
CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients. Am J Med Genet (1992) 0.79
Cerebrofaciothoracic syndrome. Am J Med Genet (1996) 0.79
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Clin Dysmorphol (1999) 0.78
Auriculo-condylar syndrome: further evidence for a new disorder. Am J Med Genet (1999) 0.78
New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients. Am J Med Genet (1999) 0.77
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. Am J Med Genet (1998) 0.77
Word-finding difficulties, verbal paraphasias, and verbal dyspraxia in ten individuals with fragile X syndrome. Am J Med Genet (1995) 0.77
Amniotic bands and the EEC syndrome. Birth Defects Orig Artic Ser (1996) 0.77
Laryngeal microweb and vocal nodules. Clinical study in a Brazilian population. Folia Phoniatr Logop (2006) 0.77
Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome. Am J Med Genet A (2003) 0.76
"New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family. Am J Med Genet (2000) 0.76
Acrofrontofacionasal dysostosis: report of the third Brazilian family. Am J Med Genet A (2003) 0.76
Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome. J Med Genet (1984) 0.75
Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: another affected Brazilian patient born to consanguineous parents. Am J Med Genet (1997) 0.75
Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters. Hum Hered (1979) 0.75
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome. Am J Med Genet (1992) 0.75
Tooth abnormalities and soft tissue alterations in patients with G/BBB syndrome. Oral Dis (2008) 0.75
Arachnoidal cyst, orofacial dysplasia, poor motor control, and severe language delay. Am J Med Genet A (2005) 0.75
Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients. Am J Med Genet (1999) 0.75
Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity. Am J Med Genet (1993) 0.75
Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? Am J Med Genet A (2006) 0.75
New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: report on two Brazilian patients. Am J Med Genet (1997) 0.75
Mandibulofacial dysostosis Bauru type syndrome: A new case. Am J Med Genet (1999) 0.75
Rapp-Hodgkin syndrome: report of a Brazilian family. Am J Med Genet (1990) 0.75
Autosomal recessive blepharoptosis, cleft lip/palate, dental anomalies, and ectrodactyly. Am J Med Genet (1992) 0.75
Guadalajara camptodactyly syndrome type I: report on a new case. Clin Dysmorphol (2002) 0.75
Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting, and preaxial polydactyly syndrome. Clin Dysmorphol (2000) 0.75
Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome? Am J Med Genet (1985) 0.75