Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1)-Reference-Cited by-同舟云学术

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Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1)

Published:1989-11 Issue:3 Volume:34 Page:358-365
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Berry Rebecca,Wilson Harry,Robinson Jeanne,Sandlin Constance,Tyson Wes,Campbell John,Porreco Richard,Manchester David

Publisher

Wiley

Subject

Genetics (clinical)

Reference9 articles.

1. The smith-lemli-opitz syndrome

2. Miller-Dieker syndrome: Lissencephaly andmonosomy 17p

3. De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.

4. Familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome

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1. Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models;Journal of Lipid Research;2011-03

2. Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat;American Journal of Medical Genetics;2003

3. Unbalanced translocation (3;5)(q26.1;p14): A clinical report;American Journal of Medical Genetics;2002-06-27

4. Síndrome de SmithLemliOpitz tipo II de diagnóstico neonatal y revisión de sus conocimientos de mayor interés;Revista de Neurología;2002

5. Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q;American Journal of Medical Genetics;2001

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