Literature DB >> 7211953

Short stature, psychomotor retardation, and unusual facial appearance in two brothers.

R D Smith, R M Fineman, G G Myers.   

Abstract

Described here are clinical, radiological, and morphological studies of two brothers with an apparently previously undescribed mental retardation syndrome.

Entities:  

Mesh：

Year:  1980        PMID： 7211953     DOI： 10.1002/ajmg.1320070103

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  6 in total

1.  Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11.

Authors:  G N Wilson; C S Richards; K Katz; G S Brookshire
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

Review 2.  Fragile X and X-linked intellectual disability: four decades of discovery.

Authors:  Herbert A Lubs; Roger E Stevenson; Charles E Schwartz
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

3.  Adult fragile X syndrome. Clinico-neuropathologic findings.

Authors:  R D Rudelli; W T Brown; K Wisniewski; E C Jenkins; M Laure-Kamionowska; F Connell; H M Wisniewski
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

Review 4.  The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective.

Authors:  Britt Mossink; Moritz Negwer; Dirk Schubert; Nael Nadif Kasri
Journal:  Cell Mol Life Sci       Date:  2020-12-02       Impact factor: 9.261

5.  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

6.  Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay.

Authors:  Yiehen Tung; Haiying Lu; Wenxin Lin; Tingting Huang; Samuel Kim; Guo Hu; Gang Zhang; Guo Zheng
Journal:  Front Genet       Date:  2021-05-20       Impact factor: 4.599
  6 in total

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