Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles
Author:
Funder
The Scientific and Technological Research Council of Turkey
URF-QAU Pakistan
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://www.nature.com/articles/s10038-020-0817-8.pdf
Reference26 articles.
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3. Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet. 2009;41:1016–21.
4. Kretz R, Bozorgmehr B, Kariminejad MH, Rohrbach M, Hausser I, Baumer A, et al. Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. J Inherit Metab Dis. 2011;34:731–9.
5. Lin DS, Chang JH, Liu HL, Wei CH, Yeung CY, Ho CS, et al. Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. Am J Med Genet A. 2011;155A:3095–9.
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