Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2

Kenny-Caffey syndrome (KCS) is a rare autosomal recessive (AR)/dominant disease characterized by hypoparathyroidism, skeletal dysplasia, dwarfism, and dysmorphism. FAM111A or TBCE gene mutations are responsible for this syndrome. Osteocraniostenosis (OCS) is a lethal syndrome with similar features t...

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Detalles Bibliográficos
Autores principales: Eren, Erdal, Tezcan Ünlü, Havva, Ceylaner, Serdar, Tarım, Ömer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976165/
https://www.ncbi.nlm.nih.gov/pubmed/34382758
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2020.0315

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976165/
https://www.ncbi.nlm.nih.gov/pubmed/34382758
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2020.0315

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