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.

Perthes disease: A new finding in Floating‐Harbor syndrome - Milani - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library

Chromosome 16p13.3 Deletion Syndrome, Proximal disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

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

Vestibular CCK signaling drives motion sickness–like behavior in mice

IJMS, Free Full-Text

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

A schematic structure of the SRCAP gene and the locations of mutations

Overview of Floating Harbor Syndrome

Floating-Harbor syndrome (Concept Id: C0729582)

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

Overview of Floating Harbor Syndrome