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Article

Novel mutation causing Zellweger syndrome.

BMJ case reports - 17 Mar 2023

Adiyapatham Sasidharan, Murugesan Ambalakkuthan

Abstract excerpt

Genetic conditions have varied presentations, and one of them is the association with multiple malformation syndrome (MMS), which has a high mortality rate in the immediate postnatal period. Here, we describe a neonate born with multiple anomalies-wide anterior and posterior fontanelle, metopic suture, flat nasal bridge, hypertelorism, low set dysplastic ears, corneal cloudiness, micrognathia, webbed neck, simian...

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Identifiers

PMID: 36931687
DOI: 10.1136/bcr-2022-252014
PMCID: PMC10030475

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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