Hypoparathyroidism-retardation-dysmorphism syndrome
OMIM:241410Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | TBCE |
|---|---|
| Reference transcript | NM_001079515.2 |
| DNA Change | c.155_166del |
| A.A. Change | p.Ser52_Gly55del |
| Exon/Intron | exon 3 |
| Mutation Type | deletion |
| Reference | Ratbi I, Lyahyai J, Kabiri M, Banouar M, Zerkaoui M, Barkat A, Sefiania A.
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. Ann Saudi Med. 2015 Mar-Apr;35(2):170-2. doi: 10.5144/0256-4947.2015.170. |