Floating-Harbor syndrome: MedlinePlus Genetics
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Descrição
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.
Clinical features of Floating Harbor Syndrome in our patient. Small
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect
IJMS, Free Full-Text
The phenotype of Floating–Harbor syndrome in 10 patients - White - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
Floating harbour syndrome with medial entropion: a rare association and brief review
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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 - Medical Definition and Pronunciation
Frontiers Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review
The promise of whole-exome sequencing in medical genetics
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