Variant: rs1283368278 

    present in Gene: TBCE
    present in Chromosome: 1
    Position on Chromosome: 235401503
    Alleles of this Variant: G/C

rs1283368278 in TBCE gene and Dysmorphic features PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

PMID 15645691 2004 Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

PMID 27666369 2016 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

PMID 2001103 1991 A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

PMID 9475091 1998 Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

PMID 7538982 1995 The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

rs1283368278 in TBCE gene and Multiple congenital anomalies PMID 15645691 2004 Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

PMID 9475091 1998 Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

PMID 2001103 1991 A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

PMID 7538982 1995 The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

PMID 27666369 2016 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.