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Article

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

American journal of medical genetics. Part A - 1 Aug 2011

Marom Daphna, Albin Adi, Schwartz Charles, Har-Zahav Adi, Straussberg Rachel, Bartel Frank, Birk Efrat, Inbar Dov, Basel-Vanagaite Lina

Abstract excerpt

We describe a consanguineous Israeli Arab kindred with five males in two interrelated families with intellectual disabilities, alacrima, achalasia, and mild autonomic dysfunction. Adrenal function is normal. Their phenotype is similar to the phenotype observed in autosomal recessive Triple A syndrome except for the presence of mental retardation in all affected individuals. The pedigree is compatible with either...

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Source

Identifiers

PMID: 21744492
DOI: 10.1002/ajmg.a.34121

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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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