Floating-Harbor syndrome: MedlinePlus Genetics
Por um escritor misterioso
Last updated 20 setembro 2024
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.
What causes deep-set eyes? Symptoms of a rare disease
Chiari I malformation as part of the Floating-Harbor syndrome? - ScienceDirect
Disorders of Chromosome 16 - DoveMed
Clinical features of Floating Harbor Syndrome in our patient. Small
Floating harbour syndrome with medial entropion: a rare association and brief review
A diagram showing potential pathogenetic mechanisms underlying the
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP, Orphanet Journal of Rare Diseases
Information March 2023 - Browse Articles
The phenotype of Floating–Harbor syndrome in 10 patients - White - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the Literature. - Abstract - Europe PMC
The first Finnish patient with the Floating‐Harbor syndrome: The follow‐up of eight years - Ala‐Mello - 2004 - American Journal of Medical Genetics Part A - Wiley Online Library
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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