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Article

Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.

Clinical dysmorphology - 1 Apr 2013

Kodaganur Srinivas G, Tontanahal Sagar J, Sarda Astha, Shah Mohd H, Bhat Vishwanath, Kumar Arun

Abstract excerpt

The objective of this study was to report the clinical phenotype and genetic analysis of two Indian families with Escobar syndrome (ES). The diagnosis of ES in both families was made on the basis of published clinical features. Blood samples were collected from members of both families and used in genomic DNA isolation. The entire coding regions and intron-exon junctions of the ES gene CHRNG (cholinergic...

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Source

Identifiers

PMID: 23448903
DOI: 10.1097/MCD.0b013e32835f9ac0

Genes

CHRNG
CHRNA1
CHRND

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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