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Fetal phenotypes of Mendelian disorders: A descriptive study from India.

Prenatal diagnosis - 1 Jun 2022

Saini Neelam, Venkatapuram Vijaya Sree, Vineeth Venugopal Satidevi, Kulkarni Aditya, Tandon Ashwani, Koppolu Gayatri, Patil Siddaramappa Jagdish, Dalal Ashwin, Aggarwal Shagun

Abstract excerpt

OBJECTIVE: Exome sequencing (ES)-based diagnosis of Mendelian diseases in the fetus is limited by paucity of phenotypic information. This study reports the comprehensive phenotypes of some fetuses with Mendelian disorders. METHODS: Next generation technology-based sequencing of all coding regions of the genome (Exome sequencing) or targeted gene sequencing using Sanger or next generation platforms was performed...

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PMID: 35587316
DOI: 10.1002/pd.6172

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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