Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant

SHOX deficiency is a common genetic cause of short stature of variable degree. SHOX haploinsufficiency causes Leri–Weill dyschondrosteosis (LWD) as well as nonspecific short stature. SHOX haploinsufficiency is known to result from heterozygous loss-of-function variants with pseudo-autosomal dominant...

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Detalles Bibliográficos
Autores principales: Vodopiutz, Julia, Steurer, Lisa-Maria, Haufler, Florentina, Laccone, Franco, Garczarczyk-Asim, Dorota, Hilkenmeier, Matthias, Steinbauer, Philipp, Janecke, Andreas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10138022/
https://www.ncbi.nlm.nih.gov/pubmed/37107635
http://dx.doi.org/10.3390/genes14040877

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10138022/
https://www.ncbi.nlm.nih.gov/pubmed/37107635
http://dx.doi.org/10.3390/genes14040877

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