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Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Int J Mol Sci. 2022 Jan 17;23(2):986. doi: 10.3390/ijms23020986.
Int J Mol Sci. 2022.
PMID: 35055180
Free PMC article.
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstädter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M.
Rehman AU, et al.
Hum Mutat. 2019 Mar;40(3):267-280. doi: 10.1002/humu.23694. Epub 2018 Dec 25.
Hum Mutat. 2019.
PMID: 30520571
Free PMC article.
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