A Novel Variant c.847T>C in
CTSK gene
Pycnodysostosis
novel variant
Journal
Clinical medicine insights. Case reports
ISSN: 1179-5476
Titre abrégé: Clin Med Insights Case Rep
Pays: United States
ID NLM: 101531893
Informations de publication
Date de publication:
2019
2019
Historique:
received:
22
01
2019
accepted:
24
01
2019
entrez:
11
4
2019
pubmed:
11
4
2019
medline:
11
4
2019
Statut:
epublish
Résumé
Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We present a case of pycnodysostosis who presented with short stature, acro-osteolysis of distal phalanges, and on genetic testing revealing a variant c.847T>C, p.Y283H, in exon 7 of the
Identifiants
pubmed: 30967749
doi: 10.1177/1179547619837234
pii: 10.1177_1179547619837234
pmc: PMC6444763
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1179547619837234Déclaration de conflit d'intérêts
Declaration of conflicting interests:The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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