A case of severe TBCE -negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review-Reference-Cited by-同舟云学术

A case of severe TBCE -negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review

Published:2018-07-28 Issue:8 Volume:176 Page:1768-1772
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet Part A

Author:

Ryabets-Lienhard Anna¹,Issaranggoon na Ayuthaya Satja¹^ORCID,Graham John M.²,Pitukcheewanont Pisit¹

Affiliation:

1. Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles; University of Southern California Keck School of Medicine; Los Angeles California

2. Departments of Pediatrics; Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA; Los Angeles California

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38851/fullpdf

Reference25 articles.

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3. Hypoparathyroidism in the adult: Epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research;Bilezikian;Journal of Bone and Mineral Research,2011

4. Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation-clinical report and review;Courtens;American Journal of Medical Genetics Part A,2006

5. Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement;Diaz;American Journal of Medical Genetics,1999

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