The H Syndrome: Molecular Diagnosis Using Next-Generation Sequencing

The H Syndrome: Molecular Diagnosis Using Next-Generation Sequencing

ABSTRACT: Objective: H syndrome is a monogenic systemic inherited form of histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. The major common endocrine manifestations include hypogonadism, short stature, and diabetes mellitus with characteristic genodermatosi...

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Main Authors: Mahesh Doddabelavangala Mruthyunjaya, MBBS, MD, DM, Aaron Chapla, MSc, PhD, Sahana Shetty, MBBS, MD, Asha Hesarghatta Shyamasunder, MBBS, DNB, DNB, Lydia Mathew, MBBS, MD, Renu George, MBBS, MD, Thomas Vizhalil Paul, MBBS, MD, DNB, PhD, Nihal Thomas, MBBS, MD, MNAMS, DNB, FRACP, FRCP, FRCP
Format: Article
Language:English
Published: Elsevier 2016-01-01
Series:AACE Clinical Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060520303874

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http://www.sciencedirect.com/science/article/pii/S2376060520303874

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