Floating-Harbor syndrome: MedlinePlus Genetics
Por um escritor misterioso
Last updated 27 dezembro 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.
Floating-Harbor syndrome: MedlinePlus Genetics
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Information March 2023 - Browse Articles
PDF] The phenotype of floating-harbor syndrome
Spectrum and location of the SRCAP truncating variants Schematic
Facial features of individuals with proximal and distal truncating
Frontiers Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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