Associated Papers
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.
Yalcouyé A et al.
Hgg Advances, 2025
39663698 (PubMed )
Supplement: mmc3.pdf
A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.
Scheffer-Rath MEA et al.
Bone Reports, 2023
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
Elli FM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
Hobson GM et al.
Neurology, 2000
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