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Alpha-thalassemia/intellectual disability syndrome

MedGen UID:
452570
Concept ID:
C0475813
Disease or Syndrome
Related gene: ATRX
Cytogenetic locations: 16pter-p13.3; Xq21.1

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Alpha-thalassemia/intellectual disability syndrome in Orphanet.

Recent clinical studies

Etiology

Kumar A, Kumar V, Arora M, Kumar M, Ammalli P, Thakur B, Prasad J, Kumari S, Sharma MC, Kale SS, Chauhan SS
Biosci Rep 2022 Apr 29;42(4) doi: 10.1042/BSR20212685. PMID: 35297481Free PMC Article

Prognosis

Kumar A, Kumar V, Arora M, Kumar M, Ammalli P, Thakur B, Prasad J, Kumari S, Sharma MC, Kale SS, Chauhan SS
Biosci Rep 2022 Apr 29;42(4) doi: 10.1042/BSR20212685. PMID: 35297481Free PMC Article

Clinical prediction guides

Kumar A, Kumar V, Arora M, Kumar M, Ammalli P, Thakur B, Prasad J, Kumari S, Sharma MC, Kale SS, Chauhan SS
Biosci Rep 2022 Apr 29;42(4) doi: 10.1042/BSR20212685. PMID: 35297481Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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    Consumer resources

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