Published in Am J Med Genet on January 23, 1998
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Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet (1998) 2.62
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Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet (2001) 1.88
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol (1999) 1.84
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Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen. Am J Med Genet (1998) 1.39
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet (2000) 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
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Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. Am J Hum Genet (1998) 1.13
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet (1993) 1.12
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Marfan syndrome in children and adolescents: predictive and prognostic value of aortic root growth for screening for aortic complications. Heart (1998) 1.10
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Polytopic anomalies with agenesis of the lower vertebral column. Am J Med Genet (1999) 1.06
The IGSF1 deficiency syndrome: characteristics of male and female patients. J Clin Endocrinol Metab (2013) 1.05
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PTEN mutations and proteus syndrome. Lancet (2001) 1.01
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias. Am J Med Genet (1998) 1.00
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. Hum Mutat (1998) 0.99
Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. Am J Hum Genet (1997) 0.98
Dermal eccrine cylindromatosis. J Med Genet (1994) 0.97
Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases. Am J Med Genet (1998) 0.97
Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product? Am J Med Genet (1997) 0.96
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies. Am J Med Genet (1998) 0.95
Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum. Cerebrovasc Dis (2000) 0.94
Multimodal imaging in the congenital pulmonary lymphangiectasia-congenital chylothorax-hydrops fetalis continuum. Lymphology (2004) 0.94
Chromosomal localisation of the Rubinstein-Taybi syndrome? Am J Med Genet (1991) 0.94
Growth in the Rubinstein-Taybi syndrome. Am J Med Genet Suppl (1990) 0.94
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations. Mol Syndromol (2012) 0.93
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. Ann Hum Genet (2001) 0.93
Associations between chromosomal anomalies and congenital heart defects: a database search. Am J Med Genet (1999) 0.93
Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism. J Clin Endocrinol Metab (2001) 0.92
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Oculoauriculovertebral spectrum and cerebral anomalies. J Med Genet (1992) 0.90
EEC syndrome and genitourinary anomalies: an update. Am J Med Genet (1996) 0.89
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Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome? Clin Dysmorphol (2000) 0.89
Hemi-hydranencephaly with favourable outcome. Dev Med Child Neurol (1992) 0.87
Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay. Clin Genet (1996) 0.87
Familial liability to intrauterine vascular impairments. Pediatrics (1990) 0.86
Clinical, serologic, and immunogenetic features of familial idiopathic inflammatory myopathy. Arthritis Rheum (1998) 0.86
Costello syndrome: report and review. Am J Med Genet (1999) 0.85
Oculocerebrocutaneous syndrome. J Med Genet (1990) 0.85
Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J Med Genet (1999) 0.85
The cerebro-costo-mandibular syndrome: third report of familial occurrence. Clin Genet (1985) 0.85
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. J Med Genet (1999) 0.84
Familial syndromic esophageal atresia maps to 2p23-p24. Am J Hum Genet (2000) 0.84
Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection. J Inherit Metab Dis (1997) 0.84
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63). Hum Genet (1995) 0.84
A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation. Genet Couns (1991) 0.84
Further delineation of the acro-renal-ocular syndrome. Am J Med Genet (1996) 0.83
Another example of the human homologue of the mouse mutant disorganization? Clin Dysmorphol (1994) 0.83
Further delineation of the partial proximal trisomy 10q syndrome. J Med Genet (1995) 0.83
Molecular study of chromosome 15 in 22 patients with Angelman syndrome. Hum Genet (1993) 0.83
Congenital glaucoma in a child with partial 1q duplication and 9p deletion. Ophthalmic Paediatr Genet (1992) 0.83
Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome. Am J Med Genet (2001) 0.83
Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome? Clin Dysmorphol (1996) 0.83
A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins. Br J Dermatol (2009) 0.83
Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene. Hum Genet (1993) 0.82
Paroxysmal intracranial hypertension and oculoauriculovertebral dysplasia. J Genet Hum (1989) 0.82
Angelman syndrome in an inbred family. Hum Genet (1996) 0.82
Rubinstein-Taybi syndrome: objective evaluation of craniofacial structure. Am J Med Genet (1997) 0.82
Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6. Am J Med Genet (1998) 0.82
Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive Urioste syndrome. Am J Med Genet (2001) 0.82
A congenital variant of glycogenosis type IV. Pediatr Pathol (1993) 0.82
Some patients with intracranial aneurysms have a reduced type III/type I collagen ratio. A case-control study. Neurology (1997) 0.81
18q- and 18q+ mosaicism in a mentally retarded boy. Am J Med Genet (1994) 0.81
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Partial monosomy 8p and partial trisomy 8p with moderate mental retardation. Genet Couns (1992) 0.81
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Childhood constipation; an overview of genetic studies and associated syndromes. Best Pract Res Clin Gastroenterol (2011) 0.80
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