Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome

We present an unusual Mexican patient affected with mucopolysaccharidosis type IIIB (MPS IIIB; also called Sanfilippo B syndrome, MIM #252920) bearing clinical features that have not previously been described for MPS IIIB (growth arrest, hypogonadotropic hypogonadism, and congenital heart disease)....

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Bibliographic Details
Main Authors: Liliana Fernández-Hernández, Miriam Erandi Reyna-Fabián, Miguel Angel Alcántara-Ortigoza, Carmen Aláez-Verson, Luis L. Flores-Lagunes, Karol Carrillo-Sánchez, Ariadna González-del Angel
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Diagnostics
Subjects:
Sanfilippo B syndrome
MPS IIIB
unusual manifestations
growth arrest
sexual development
clinical exome sequencing
Online Access:https://www.mdpi.com/2075-4418/12/5/1268

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https://www.mdpi.com/2075-4418/12/5/1268

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