SAT-257 Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review

Background: The term ‘H syndrome’ was coined to denote the major clinical findings, which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hyperglycaemia, hypogonadism, hallux flexion contractures, and short height. Objectives: To report the clinical, endocrinological, hi...

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Detalles Bibliográficos
Autores principales: Simsek, Enver, Simsek, Tulay, Makbule, Eren, Ciftci, Evrim, Arik, Deniz, Cilingir, Oguz, Ceylaner, Serdar, Harmanci, Koray
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552111/
http://dx.doi.org/10.1210/js.2019-SAT-257

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552111/
http://dx.doi.org/10.1210/js.2019-SAT-257

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