Two Novel Variants Associated with Brain Abnormalities in Clinical Suspicion of Arthrogryposis and Similar Phenotype in Three Children: Challenges in Offering Prenatal Diagnosis.
作者信息
Pande Shailesh, Mutha Sonali, Surve Suchitra, Babu Shiny, Gawde Harshwardhan
机构信息
Genetic Research Centre, ICMR- National Institute for Research in Reproductive and Child Health, Jehangir Merwanji Street, Parel, Mumbai, Maharashtra India.
Shreyas Polyclinic, Thane, Maharashtra India.
出版信息
J Obstet Gynaecol India. 2024 Jun;74(3):271-274. doi: 10.1007/s13224-023-01776-6. Epub 2023 Sep 1.
Abstract
摘要
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Two Novel Variants Associated with Brain Abnormalities in Clinical Suspicion of Arthrogryposis and Similar Phenotype in Three Children: Challenges in Offering Prenatal Diagnosis.在三名临床怀疑患有关节挛缩症及类似表型且伴有脑部异常的儿童中发现的两个新变异：产前诊断面临的挑战
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本文引用的文献
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Hydrocephaly associated with compound heterozygous alterations in TRAPPC12.与TRAPPC12复合杂合性改变相关的脑积水
Birth Defects Res. 2020 Aug;112(13):1028-1034. doi: 10.1002/bdr2.1699. Epub 2020 Apr 29.
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Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.先天性脑室扩大和脑积水的产前遗传学考量
Childs Nerv Syst. 2020 Aug;36(8):1645-1660. doi: 10.1007/s00381-020-04526-5. Epub 2020 Jan 31.
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Associated anomalies in cases with agenesis of the corpus callosum.胼胝体发育不全病例中的相关异常。
Am J Med Genet A. 2019 Oct;179(10):2101-2111. doi: 10.1002/ajmg.a.61330. Epub 2019 Aug 24.
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Gene ontology analysis of arthrogryposis (multiple congenital contractures).关节挛缩症（多发性先天性挛缩）的基因本体论分析。
Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):310-326. doi: 10.1002/ajmg.c.31733. Epub 2019 Aug 1.
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