A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay

Author:

Scheffer-Rath Mirjam E.A.,Veenstra-Knol Hermine E.,Boot Annemieke M.

Publisher

Elsevier BV

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference20 articles.

1. Bae J, Choi HS, Park SY, Lee DE, Lee S. Novel mutation in related to brachydactyly type E2 initially confused with unclassical Pseudopseudohypoparathyroidism. Endocrinol. Metab. 2018:1;33(2):252–259.

2. Novel pathogenetic variants in PTHLH and TRPS1 genes causing syndromic brachydactyly;Elli;J. Bone Miner. Res.,2022

3. Fu D, Wang H, Zhang Y, Chen Y, Wei H, Tan Q, et al. Mutation analysis of a pedigree affected with brachydactyly type E2 and obesity. Zhonghua yi xue yi chuan xue za zhi 2019:10;36(3):257–259.

4. Reconsidering the impact of preterm birth on language outcome;Guarini;Early Hum. Dev.,2009

5. A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum;Huang;Chin. Med. J.,2019

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