Floating-Harbor syndrome: MedlinePlus Genetics
Por um escritor misterioso
Last updated 26 março 2025

Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. Explore symptoms, inheritance, genetics of this condition.

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Floating-Harbor syndrome: MedlinePlus Genetics

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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP, Orphanet Journal of Rare Diseases

Floating–Harbor syndrome and polycystic kidneys associated with SRCAP mutation - Reschen - 2012 - American Journal of Medical Genetics Part A - Wiley Online Library

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome, Orphanet Journal of Rare Diseases

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PDF) Floating–Harbor syndrome

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome - Bartsch - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library

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