Floating-Harbor syndrome: MedlinePlus Genetics
Por um escritor misterioso
Last updated 11 novembro 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.
Disorders of Chromosome 16 - DoveMed
Search for a gene responsible for Floating‐Harbor syndrome on chromosome 12q15q21.1 - Lopez - 2012 - 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
Spectrum and location of the SRCAP truncating variants Schematic
The phenotype of Floating–Harbor syndrome in 10 patients - White - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
Chromosome 16p13.3 Deletion Syndrome, Proximal disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Floating-Harbor syndrome: MedlinePlus Genetics
A schematic of the SRCAP gene and comparison of SRCAP-conserved ATPase
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome, BMC Medical Genetics
PDF] The phenotype of floating-harbor syndrome
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