Floating-Harbor syndrome: MedlinePlus Genetics

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.

A schematic of the SRCAP gene and comparison of SRCAP-conserved ATPase

Disorders of Chromosome 16 - DoveMed

Angelman syndrome: MedlinePlus Genetics

Floating Harbor Syndrome – Floating Harbor Syndrome Global Support

Ushering in a New Era of Genetics Children's Hospital of Philadelphia

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome, BMC Medical Genetics

Genetic and pharmacologic proteasome augmentation ameliorates Alzheimer's-like pathology in mouse and fly APP overexpression models

A) An X-ray of the hands of a 9-year-old patient displaying

Angelman syndrome: MedlinePlus Genetics

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

Floating Harbor Syndrome by roxan ghossein

The phenotype of Floating–Harbor syndrome in 10 patients - White - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library

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

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

What causes deep-set eyes? Symptoms of a rare disease