Condition: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
rs758937799
in
TBCE
gene and
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
PMID 12389028
2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
PMID 25097779
2014 New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman.