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

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...

Full description

Bibliographic Details
Main Authors: Mirjam E.A. Scheffer-Rath, Hermine E. Veenstra-Knol, Annemieke M. Boot
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:Bone Reports
Subjects:
PTHLH
PTH-related peptide
Brachydactyly type E
Disproportionate short stature
Developmental delay
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187223000475

Internet

http://www.sciencedirect.com/science/article/pii/S2352187223000475

Similar Items