A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects-Reference-Cited by-同舟云学术

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A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects

Published:2021-12 Issue: Volume:153 Page:116152
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Palagano Eleonora,Gordon Christopher T.,Uva Paolo,Strina Dario,Dimartino Clémantine,Villa Anna,Amiel Jeanne,Guion-Almeida Maria L.,Vendramini-Pittoli Siulan,Kokitsu-Nakata Nancy M.,Zechi-Ceide Roseli M.,Sobacchi Cristina

Funder

Seventh Framework Programme

European Commission Seventh Framework Programme for Research and Technological Development Health

Fondazione Telethon

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference38 articles.

1. Nosology and classification of genetic skeletal disorders: 2019 revision;Mortier;Am. J. Med. Genet. A,2019

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 poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome;Richieri-Costa;Am. J. Med. Genet. A,1985

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

4. Acrofrontofacionasal dysostosis: report of the third Brazilian family;Guion-Almeida;Am. J. Med. Genet. A,2003

5. Acrofrontofacionasal Dysostosis 1 in two sisters of Indian origin;Prontera;Am. J. Med. Genet. A,2011

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