Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism-Reference-Cited by-同舟云学术

Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

Published:2004 Issue:3 Volume:126A Page:308-312
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Faivre Laurence,Merrer Martine Le,Douvier Serges,Laurent Nicole,Thauvin-Robinet Christel,Rousseau Thierry,Vereecke Inge,Sagot Paul,Delezoide Anne-Lise,Coucke Paul,Mortier Geert

Publisher

Wiley

Subject

Genetics (clinical)

Reference16 articles.

1. Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

2. Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships

3. Achondrogenesis II-hypochondrogenesis: Variability versus heterogeneity

4. Achondrogenesis: A review with special consideration of achondrogenesis type II (langer-saldino)

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