PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities

Author:

Suleiman J.12ORCID,Al Hashem A.M.3,Tabarki B.4,Al-Thihli K.5ORCID,Bi W.67,El-Hattab A.W.8ORCID

Affiliation:

1. Division of Neurology, Pediatrics Department; Tawam Hospital; Al Ain United Arab Emirates

2. Department of Pediatrics, College of Medicine and Health sciences; United Arab Emirates University; Al Ain United Arab Emirates

3. Division of Genetics, Pediatrics Department; Prince Sultan Military Medical City; Riyadh Saudi Arabia

4. Division of Neurology, Pediatrics Department; Prince Sultan Military Medical City; Riyadh Saudi Arabia

5. Genetic and Developmental Medicine Clinic; Sultan Qaboos University Hospital; Muscat Oman

6. Department of Molecular and Human Genetics, Baylor College of Medicine; Houston Texas

7. Baylor Genetics; Houston Texas

8. Division of Genetic and Metabolic Disorders, Pediatrics Department; Tawam Hospital; Al Ain United Arab Emirates

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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