Further delineation ofHIDEAsyndrome

Maddirevula, S; Ben-Omran, T; AlMureikhi, M; Eyaid, W; Arabi, H; Alkuraya, H; Alfaifi, A; Alfalah, AH; Alsaif, HS; Abdulwahab, F; Alfadhel, M; Alkuraya, FS

Alkuraya, FS (corresponding author), King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020; 182 (12): 2999

Abstract

Recently, the genetic cause of HIDEA syndrome (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities) was......

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