Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata-Reference-Cited by-同舟云学术

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata

Published:2007-09 Issue:5 Volume:50 Page:392-398
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Hellenbroich Yorck,Grzeschik Karl-Heinz,Krapp Martin,Jarutat Tiantom,Lehrmann-Petersen Christa,Buiting Karin,Gillessen-Kaesbach Gabriele

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference23 articles.

1. Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns;Beever;Am. J. Med. Genet. A,2003

2. Mutational spectrum of NSDHL in CHILD syndrome;Bornholdt;J. Med. Genet.,2005

3. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi–Hunermann syndrome;Braverman;Nat. Genet.,1999

4. Vorzeitiges Auftreten von Knochen und eigenartigen Verkalkungskernen bei Chondrodystrophia foetalis hypoplastica: Histologische und Röntgenuntersuchungen;Conradi;Jahrb. Kinderheilkd.,1914

5. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata;Derry;Nat. Genet.,1999

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