Literature DB >> 490235

Autosomal dominant microcephaly.

R H Haslam, D W Smith.   

Abstract

Four families with autosomal dominant microcephaly are reported. Although the phenotype is nondistinctive, several patients had receding or small foreheads, upslanted palpebral fissures, or prominent ears. The degree of intellectual dysfunction is not as severe as that recorded in autosomal recessive microcephaly. It would appear that autosomal dominant microcephaly is more common than previously recorded, and that head circumference measurements of siblings and parents of affected patients should become a part of the initial investigation.

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Year:  1979        PMID: 490235     DOI: 10.1016/s0022-3476(79)80714-3

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  4 in total

Review 1.  Evolution of the Human Nervous System Function, Structure, and Development.

Authors:  André M M Sousa; Kyle A Meyer; Gabriel Santpere; Forrest O Gulden; Nenad Sestan
Journal:  Cell       Date:  2017-07-13       Impact factor: 41.582

2.  A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20.

Authors:  R Vivarelli; O Zuffardi; P Maraschio; C Anichini; R Scarinci
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

3.  Apparent microcephaly caused by a bicornuate uterus.

Authors:  R M Winter; J Dearlove; H Jolly; M Pawson; R G Wilson
Journal:  Br Med J (Clin Res Ed)       Date:  1983-05-21

4.  Autosomal dominant isolated ('uncomplicated') microcephaly.

Authors:  P Merlob; D Steier; S H Reisner
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

  4 in total

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