A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia-Reference-Cited by-同舟云学术

A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia

Published:2019-03-20 Issue:6 Volume:179 Page:1010-1014
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Aljeaid Deema¹²^ORCID,Lombardo Rachel C.¹³^ORCID,Witte David P.⁴,Hopkin Robert J.¹⁵^ORCID

Affiliation:

1. Division of Human GeneticsCincinnati Children's Hospital Medical Center Cincinnati Ohio

2. Department of Genetics Medicine, Faculty of MedicineKing Abdulaziz University Jeddah Saudi Arabia

3. Division of Genetics and MetabolismUniversity of Texas Southwestern Dallas Texas

4. Division of PathologyCincinnati Children's Hospital Medical Center Cincinnati Ohio

5. Department of PediatricsUniversity of Cincinnati College of Medicine Cincinnati Ohio

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61018

Reference45 articles.

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3. Joubert Syndrome and related disorders

4. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

5. Orofaciodigital syndrome associated with agenesis of the pituitary gland;Buno M.;Anales espanoles de pediatria,2000

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