Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis : Case report

Rationale: Osteopathia striata with cranial sclerosis is characterized by linear striations in the metaphysis of the long bones and pelvis with cranial sclerosis. It is an X-linked dominant sclerosing bone dysplasia and affected males show fetal or neonatal lethality. Mutations in the gene encoding...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Medicine (Baltimore) 2021-10, Vol.100 (40), p.e27346-e27346
Hauptverfasser:	Jeong, Changhoon, Kim, Myungshin, Yim, Jisook, Park, Il-Jung, Lee, Jiwon, Lee, Jaeyoung
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Clinical Case Report Codon, Nonsense Female Humans Osteosclerosis - diagnosis Osteosclerosis - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!