Indian J Hum Genet. 2013 Jul;19(3):363-5. doi: 10.4103/0971-6866.120814.
PMID:24339556
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.
David O, Kristal E, Ling G, Broides A, Hadad N, Shubinsky G, Nahum A.