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Article

Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.

American journal of medical genetics. Part A - 1 Aug 2021

Moirangthem Amita, Mandal Kausik, Saxena Deepti, Srivastava Priyanka, Gambhir Poonam Singh, Agrawal Neha, Shambhavi Arya, Nampoothiri Sheela, Phadke Shubha R

Abstract excerpt

Overgrowth, defined as height and/or OFC ≥ +2SD, characterizes a subset of patients with syndromic intellectual disability (ID). Many of the disorders with overgrowth and ID (OGID) are rare and the full phenotypic and genotypic spectra have not been unraveled. This study was undertaken to characterize the phenotypic and genotypic profile of patients with OGID. Patients with OGID were ascertained from the cohort...

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PMID: 33942996
DOI: 10.1002/ajmg.a.62241

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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