Literature DB >> 6851218

Silent microcephaly: a distinct autosomal dominant trait.

M L Ramírez, F Rivas, J M Cantú.   

Abstract

Thirteen patients from three unrelated families were found to have microcephaly, without any neurological or dysmorphic manifestations. Autosomal dominant inheritance is concluded since the trait was transmitted directly in all three families, including one male-to-male instance. The recognition of this uncomplicated form of microcephaly as a Mendelian trait further extends its etiological heterogeneity.

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Year:  1983        PMID: 6851218     DOI: 10.1111/j.1399-0004.1983.tb01877.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.

Authors:  B Z Garty; B Eisenstein; J Sandbank; S Kaffe; R Dagan; N Gadoth
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

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

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

3.  The etiologic patterns in microcephaly with mental retardation.

Authors:  K M Prasad; S R Girimaji; K R Manjunatha; N Khanna; B S Rao; V Ravi; R S Murthy; K R Vani
Journal:  Indian J Psychiatry       Date:  1995-04       Impact factor: 1.759

4.  PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.

Authors:  Amjad Khan; Manal Alaamery; Salam Massadeh; Abdulrahman Obaid; Amna A Kashgari; Christopher A Walsh; Wafaa Eyaid
Journal:  Clin Genet       Date:  2020-05-17       Impact factor: 4.438

  4 in total

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