Report of two novel mutations inPTHLHassociated with brachydactyly type E and literature review-Reference-Cited by-同舟云学术

Report of two novel mutations inPTHLHassociated with brachydactyly type E and literature review

Published:2015-12-06 Issue:3 Volume:170 Page:734-742
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Thomas-Teinturier Cecile¹,Pereda Arrate²,Garin Intza²,Diez-Lopez Ignacio³,Linglart Agnès¹⁴⁵,Silve Caroline⁴⁶,de Nanclares Guiomar Pérez²

Affiliation:

1. Pediatric Endocrinology, APHP; Hôpital Bicêtre; Le Kremlin Bicêtre France

2. Molecular (Epi)Genetics Laboratory; BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu; Vitoria-Gasteiz Spain

3. Department of Pediatrics; Hospital Universitario Araba-Txagorritxu; Vitoria-Gasteiz Spain

4. INSERM U1169, Hôpital Bicêtre; Le Kremlin Bicêtre, et Université Paris-Saclay; France

5. Centre de Référence des Maladies Rares du Métabolisme du calcium et du phosphore and Plateforme d'Expertise Paris Sud Maladies Rares; Hôpital Bicêtre; Le Kremlin Bicêtre France

6. Service de Biochimie et Génétique Moléculaires; Hôpital Cochin; Paris France

Funder

Institute of Health Carlos III

FEDER (European Regional Development Fund)

INSERM and Assistance Publique - Hôpitaux de Paris

Spanish Ministry of Health

I3SNS Program of the Spanish Ministry of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37490/fullpdf

Reference30 articles.

1. Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia;Cao;Mov Disord,2010

2. The nonsense-mediated decay RNA surveillance pathway;Chang;Annu Rev Biochem,2007

3. Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes;Clavero;Hum Genet,2004

4. Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH;Collinson;Am J Med Genet A,2010

5. PTHR1 mutations associated with Ollier disease result in receptor loss of function;Couvineau;Hum Mol Genet,2008

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1. A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature;Molecular Genetics & Genomic Medicine;2024-02

2. A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay;Bone Reports;2023-12

3. A novel variant in the ROR2 gene underlying brachydactyly type B: a case report;BMC Pediatrics;2022-09-05

4. Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly;Journal of Bone and Mineral Research;2022-01-17

5. Structural pharmacology of PTH and PTHrP;Vitamins and Hormones;2022