Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin-Reference-Cited by-同舟云学术

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Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin

Published:2011-11-03 Issue:12 Volume:155 Page:3125-3127
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Prontera Paolo,Urciuoli Riccardo,Siliquini Sabrina,Macone Sara,Stangoni Gabriela,Donti Emilio,Cantisani Teresa Anna,Elia Maurizio,Belcastro Vincenzo

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34295/fullpdf

Reference3 articles.

1. Acrofrontofacionasal dysostosis: Report of the third Brazilian family;Guion-Almeida;Am J Med Genet,2003

2. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial polysyndactyly: Acro-fronto-facio-nasal dysostosis syndrome;Richieri-Costa;Am J Med Genet,1985

3. Acro-fronto-facio-nasal dysostosis: Report of a new Brazilian family;Richieri-Costa;Am J Med Genet,1992

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2. A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects;Bone;2021-12

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