Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome-Reference-Cited by-同舟云学术

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Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome

Published:2011-04-04 Issue:5 Volume:155 Page:1147-1151
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mégarbané André,Chouery Eliane,Mignon-Ravix Cécile,El Sabbagh Sandra,Corbani Sandra,Ghoch Joelle Abou,Jalkh Nadine,Mehawej Cybel,Lévy Nicolas,Villard Laurent

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33938/fullpdf

Reference11 articles.

1. Atypical case of Smith-Lemli-Opitz syndrome: Implications for diagnosis;Angle;Am J Med Genet,1998

2. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia;Dobyns;Am J Med Genet,1999

3. Neuropeptide FF2 receptor distribution in the human brain. An immunohistochemical study;Goncharuk;Peptides,2008

4. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood;Grimberg;Nucleic Acids Res,1989

5. Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs;Guilherme;Am J Med Genet Part A,2008

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1. Arx together with FoxA2, regulates Shh floor plate expression;Developmental Biology;2014-09

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