A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene

The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of...

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Detalles Bibliográficos
Autores principales: Keskin, Melikşah, Muratoğlu Şahin, Nursel, Kurnaz, Erdal, Bayramoğlu, Elvan, Savaş Erdeve, Şenay, Aycan, Zehra, Çetinkaya, Semra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363173/
https://www.ncbi.nlm.nih.gov/pubmed/27796265
http://dx.doi.org/10.4274/jcrpe.3238

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363173/
https://www.ncbi.nlm.nih.gov/pubmed/27796265
http://dx.doi.org/10.4274/jcrpe.3238

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