Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias

We present a Pakistani kinship afflicted with a syndrome with features including short stature, reduced sitting height, orofacial symptoms including prominent forehead and thick eyebrows, short and broad thorax, and variable features such as long philtrum, short broad neck, barrel chest, thoracic ky...

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Detalles Bibliográficos
Autores principales: Koprulu, Mine, Shabbir, Rana Muhammad Kamran, Mumtaz, Sara, Tolun, Aslıhan, Malik, Sajid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: YJBM 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10524810/
https://www.ncbi.nlm.nih.gov/pubmed/37780995
http://dx.doi.org/10.59249/RLAU6003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10524810/
https://www.ncbi.nlm.nih.gov/pubmed/37780995
http://dx.doi.org/10.59249/RLAU6003

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