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A rare case of fatty acyl-CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype.

作者信息

Radha Rama Devi Akella, Naushad Shaik Mohammad, Jain Romit, Lingappa Lokesh

机构信息

Rainbow Children Hospital, Hyderabad, India.

Sandor Speciality Diagnostics Pvt Ltd, Hyderabad, India.

出版信息

Clin Genet. 2021 May;99(5):744-745. doi: 10.1111/cge.13934. Epub 2021 Feb 14.

DOI:10.1111/cge.13934
PMID:33586168
Abstract
摘要

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引用本文的文献

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A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene.由GNPAT基因内含子深处剪接变异导致的点状骨骺发育异常的牛模型。
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2
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.运用 ClinGen 临床有效性框架评估与过氧化物酶体疾病相关基因的证据强度，并更新过氧化物酶体疾病命名法。
Mol Genet Metab. 2023 Jul;139(3):107604. doi: 10.1016/j.ymgme.2023.107604. Epub 2023 May 11.