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

Mutations in PTHLH (PTH-like hormone), cause brachydactyly type E (BDE) characterized by shortening of metacarpals, metatarsals and/or phalanges with short stature. In this report we describe three siblings and their mother with a novel heterozygous mutation c.25 T > C, p.Trp9Arg in exon 2 of the...

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Detalles Bibliográficos
Autores principales: Scheffer-Rath, Mirjam E.A., Veenstra-Knol, Hermine E., Boot, Annemieke M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10368755/
https://www.ncbi.nlm.nih.gov/pubmed/37501674
http://dx.doi.org/10.1016/j.bonr.2023.101699

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10368755/
https://www.ncbi.nlm.nih.gov/pubmed/37501674
http://dx.doi.org/10.1016/j.bonr.2023.101699

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