Published in Am J Med Genet on March 29, 1996
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A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am J Hum Genet (2006) 1.20
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The neurofibromatosis-Noonan syndrome. Am J Med Genet (1985) 1.49
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Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. Am J Med Genet (1999) 1.41
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Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet (1997) 1.40
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism? Am J Med Genet (1996) 1.39
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. Hum Mol Genet (2001) 1.38
SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. Am J Med Genet (2001) 1.37
The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser (1975) 1.36
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet (1996) 1.35
Clinical and molecular analysis in Joubert syndrome. Am J Med Genet (1997) 1.33
Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family. J Bone Joint Surg Am (1993) 1.31
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The Stickler syndrome. N Engl J Med (1972) 1.25
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Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilkd (1973) 1.22
Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet (1981) 1.21
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The trisomy 4p syndrome: case report and review. Am J Med Genet (1977) 1.20
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Holoprosencephaly: from Homer to Hedgehog. Clin Genet (1998) 1.18
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. Am J Med Genet (1988) 1.18
Mutations in holoprosencephaly. Hum Mutat (2000) 1.17
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet (1995) 1.17
The topographic organization of repetitive DNA in the human nucleolus. Genomics (1993) 1.17
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The Dubowitz syndrome. Z Kinderheilkd (1971) 1.14
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Multiple pterygium syndrome. Am J Med Genet (1980) 1.13
Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. J Med Genet (2005) 1.13
The pallister mosaic syndrome. Birth Defects Orig Artic Ser (1977) 1.12
Heterogeneity of Chondrodysplasia punctata. Humangenetik (1971) 1.12
Errors of morphogenesis and developmental field theory. Am J Med Genet (1998) 1.12
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Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. Genetics (2001) 1.12
The MIller-Dieker syndrome. Pediatrics (1980) 1.11
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet (1997) 1.11
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. J Med Genet (2005) 1.11
Neurologic and psychometric findings in the Brachmann-De Lange syndrome. Neuropadiatrie (1971) 1.10
The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet (1979) 1.10
Physical mapping of the holoprosencephaly critical region in 18p11.3. Am J Hum Genet (1995) 1.09
The benign proximal spinal progressive muscular atrophies. Acta Neurol Scand (1968) 1.09
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