Mutations in IFT80 cause SRPS Type IV. Report of two families and review-Reference-Cited by-同舟云学术

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Mutations in IFT80 cause SRPS Type IV. Report of two families and review

Published:2019-02-14 Issue:4 Volume:179 Page:639-644
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Bizaoui Varoona¹²^ORCID,Huber Céline³,Kohaut Eva⁴,Roume Joelle⁵,Bonnière Maryse⁴,Attié-Bitach Tania²³⁴,Cormier-Daire Valérie¹²³

Affiliation:

1. Reference Center for Skeletal Dysplasia, AP-HP; Necker-Enfants Malades Hospital; Paris France

2. Département de Génétique; Université Paris Descartes-Sorbonne Paris Cité; Paris France

3. INSERM UMR1163, IMAGINE Institute; Paris France

4. Unité d'Embryofoetopathologie, Service d'histologie-embryologie-cytogénétique, AP-HP; Hôpital Necker-Enfants Malades; Paris France

5. Department of Genetics, Reference Center for Rare Developmental Diseases (AnD DI Rares); CHI Poissy; Poissy France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61050/fullpdf

Reference20 articles.

1. Asphyxiating thoracic dysplasia: Clinical and molecular review of 39 families;Baujat;Journal of Medical Genetics,2013

2. Ellis-Van Creveld syndrome;Baujat;Orphanet Journal of Rare Diseases,2007

3. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy;Beales;Nature Genetics,2007

4. A new short rib syndrome: report of two cases;Beemer;American Journal of Medical Genetics,1983

5. Nosology and classification of genetic skeletal disorders: 2015 revision;Bonafe;American Journal of Medical Genetics. Part A,2015

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