The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

S, Kumble; AM, Levy; J, Punetha; H, Gao; Mew N, Ah; K, Anyane-Yeboa; PJ, Benke; SM, Berger; L, Bjerglund; B, Campos-Xavier; M, Ciliberto; JS, Cohen; AM, Comi; C, Curry; L, Damaj; AS, Denommé-Pichon; L, Emrick; L, Faivre; MB, Fasano; A, Fiévet; RS, Finkel; S, García-Miñaúr; A, Gerard; P, Gomez-Puertas; Sacoto MJ, Guillen; TL, Hoffman; L, Howard; AD, Iglesias; K, Izumi; A, Larson; A, Leiber; R, Lozano; I, Marcos-Alcalde; CS, Mintz; SV, Mullegama; RS, Møller; S, Odent; H, Oppermann; E, Ostergaard; M, Pacio-Míguez; M, Palomares-Bralo; S, Parikh; AM, Paulson; K, Platzer; JE, Posey; L, Potocki; A, Revah-Politi; M, Rio; AL, Ritter; S, Robinson; JA, Rosenfeld; F, Santos-Simarro; SB, Sousa; M, Wéber; Y, Xie; WK, Chung; NJ, Brown; Z, Tümer

doi:10.1002/humu.24308

Public

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

Shared by NobleBlocks on Dec 11, 2021 • 12:00 AM UTC

Authors:

Kumble S

Levy AM

Punetha J

Abstract

De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability (ID). The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum stress through transcriptional control...

Subject

Variant

Short Stature

Intellectual Disability

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