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

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...

Full description

Bibliographic Details
Main Authors: Erdal Eren, Havva Tezcan Ünlü, Serdar Ceylaner, Ömer Tarım
Format: Article
Language:English
Published: Galenos Yayincilik 2023-03-01
Series:JCRPE
Subjects:
hypoparathyroidism
skeletal dysplasia
osteocraniostenosis
short stature
dysmorphism
fam111a gene
autosomal recessive
Online Access:https://jcrpe.org/jvi.aspx?un=JCRPE-38257&volume=15&issue=1

Internet

https://jcrpe.org/jvi.aspx?un=JCRPE-38257&volume=15&issue=1

Similar Items