Literature DB >> 1583667

X linked alpha thalassaemia/mental retardation (ATR-X) syndrome.

A E Chudley, R B Lowry.   

Abstract

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Year:  1992        PMID： 1583667      PMCID： PMC1015968          DOI： 10.1136/jmg.29.5.357

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

1.  X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

Authors:  A O Wilkie; R J Gibbons; D R Higgs; M E Pembrey
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

Review 2.  A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.

Authors:  R J Gibbons; A O Wilkie; D J Weatherall; D R Higgs
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

3.  Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.

Authors:  T R Cole; A May; H E Hughes
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

4.  Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome.

Authors:  A E Chudley; R B Lowry; D I Hoar
Journal:  Am J Med Genet       Date:  1988-12
  4 in total
  2 in total

Review 1.  Chromatin modification and disease.

Authors:  C A Johnson
Journal:  J Med Genet       Date:  2000-12       Impact factor: 6.318

2.  X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.

Authors:  Fatemeh Shakarami; Mehdi Jahani; Zahra Nouri; Mohammad Amin Tabatabaiefar
Journal:  Mol Genet Genomic Med       Date:  2022-08-13       Impact factor: 2.473
  2 in total

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