Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism

BACKGROUND: Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and 5th fingers and toes. Initially, we suspe...

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Detalles Bibliográficos
Autores principales: Bae, Jihong, Choi, Hong Seok, Park, So Young, Lee, Do-Eun, Lee, Sihoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Endocrine Society 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021309/
https://www.ncbi.nlm.nih.gov/pubmed/29947179
http://dx.doi.org/10.3803/EnM.2018.33.2.252

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021309/
https://www.ncbi.nlm.nih.gov/pubmed/29947179
http://dx.doi.org/10.3803/EnM.2018.33.2.252

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