Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene-Reference-Cited by-同舟云学术

Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene

Published:2021-10-08 Issue: Volume: Page:
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Bijarnia-Mahay Sunita^ORCID,Somashekar Puneeth H.,Kaur Parneet,Kulshrestha Samarth,Ramprasad Vedam L.,Murugan Sakthivel,Sud Seema,Shukla Anju^ORCID

Funder

U.S. Department of Health & Human Services | National Institutes of Health

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://www.nature.com/articles/s10038-021-00981-3.pdf

Reference12 articles.

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2. Bienias K, Fiedorowicz A, Sadowska A, Prokopiuk S, Car H. Regulation of sphingomyelin metabolism. Pharm Rep. 2016;68:570–81. https://doi.org/10.1016/j.pharep.2015.12.008.

3. Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, et al. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019;105:689–705. https://doi.org/10.1016/j.ajhg.2019.08.006.

4. Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, et al. Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. J Med Genet. 2020:jmedgenet, 2020-106901. https://doi.org/10.1136/jmedgenet-2020-106901.

5. WHO Multicentre Growth Reference Study Group. WHO Child Growth Standards based on length/height, weight and age. Acta Paediatr Suppl. 2006;450:76–85.

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