Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome-Reference-Cited by-同舟云学术

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome

Published:2003-08-25 Issue:1 Volume:122A Page:24-29
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Langius Fernanda A.A.,Waterham Hans R.,Romeijn Gerrit Jan,Oostheim Wendy,de Barse Martina M.J.,Dorland Lambertus,Duran Marinus,Beemer Frits A.,Wanders Ronald J.A.,Poll-The Bwee Tien

Publisher

Wiley

Subject

Genetics (clinical)

Reference17 articles.

1. Female external genitalia and müllerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome

2. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism

3. Smith-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

4. Cholesterol metabolsim defect associated with Conradi-Hunerman-Happle syndrome

5. Mutations in the 7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

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1. Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays;Clinical Case Reports;2023-02

2. Auditory phenotype of Smith–Lemli–Opitz syndrome;American Journal of Medical Genetics Part A;2021-02-02

3. Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly;JIMD Reports;2020-08-09

4. Phenotypic description of two adult brothers presenting with mild form of Smith–Lemli–Opitz syndrome;Clinical Dysmorphology;2019-07

5. A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases;Journal of Pediatric Genetics;2019-04-01