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Article

Perrault syndrome: The Way Forward After Genetic Counselling?

BMJ case reports - 29 Mar 2024

Kapil Ishan, Anand Rohit, Padhi Phalguni

Abstract excerpt

A female, term neonate, born via vaginal delivery to a G5P1D1A3 hypothyroid mother with a history of an elder sibling being homozygous for HSD17B4 mutation, diagnosed while working up his progressive neurological disorder and succumbing to the same. The family screening revealed that both parents were heterozygous carriers of the same mutation in the gene HSD17B4 After genetic counselling, amniocentesis revealed...

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Source

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Identifiers

PMID: 38553020
DOI: 10.1136/bcr-2023-258204
PMCID: PMC10982697

Genes

HSD17B4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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