Floating-Harbor syndrome: MedlinePlus Genetics
Por um escritor misterioso
Last updated 09 abril 2025

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.

Angelman syndrome: MedlinePlus Genetics

Floating-Harbor syndrome: MedlinePlus Genetics

Polycystic kidney disease- Genome Sequencing Blog For Everyday People

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 and polycystic kidneys associated with SRCAP mutation - Reschen - 2012 - American Journal of Medical Genetics Part A - Wiley Online Library

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome, Orphanet Journal of Rare Diseases

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

FHS vaccination – Floating Harbor Syndrome

PDF) Floating–Harbor syndrome

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome - Bartsch - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library

Coffin-Siris Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PDF) A rare cause of short stature: the floating harbor syndrome

Brain Sciences, Free Full-Text

Ushering in a New Era of Genetics Children's Hospital of Philadelphia

Genes, Free Full-Text
Recomendado para você
-
Rubinstein-Taybi Syndrome09 abril 2025
-
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library09 abril 2025
-
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients - ScienceDirect09 abril 2025
-
Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect09 abril 2025
-
PDF) The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature09 abril 2025
-
NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain09 abril 2025
-
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library09 abril 2025
-
Expanding the phenotype associated to KMT2A variants: overlapping09 abril 2025
-
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC09 abril 2025
-
(PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly09 abril 2025
você pode gostar
-
bec7z👽 on X: Vamos concordar que Demon slayer / kimetsu no yaiba09 abril 2025
-
Discovering the forest wonders of Africa – and the threats they face - CIFOR Forests News09 abril 2025
-
🔥LIVE ON !! 🔥LIVE ABRIDA🔥FIVEM SEM PLACA DE VIDEO🔥(I3 810009 abril 2025
-
JOGO COZINHA PINTADO OKFORD 5 PÇ (SITE)-AZUL C/ ROSA - Elo Armarinho09 abril 2025
-
Duck Life - Play Online + 100% For Free Now - Games09 abril 2025
-
ROBLOX - Free download and software reviews - CNET Download09 abril 2025
-
Donovan Briseño, la Carta poblana en Ajedrez en los Nacionales CONADE - El Sol de Puebla09 abril 2025
-
♡ I find everything a nightmare - DPR Ian, Scaredy Cat, Moodswings In This Order @dprian #dprian #christianyu #dprlive #dprrem…09 abril 2025
-
Terraria Muramasa Sword Design Mouse Pad for Sale by09 abril 2025
-
🎮 Como sobreviver ao Halt em Roblox Doors09 abril 2025