Literature DB >> 6414096

Inherited disorders in the Afrikaner population of southern Africa. Part II. Skeletal, dermal and haematological conditions; the Afrikaners of Gamkaskloof; demographic considerations.

M C Botha, P Beighton.   

Abstract

In addition to the genetic conditions reviewed in Part I of this article, sclerosteosis, spondyloepimetaphyseal dysplasia, lipoid proteinosis, keratolytic winter erythema and various haematological disorders also occur in high frequency in the Afrikaner community. The recognition of the presence of these serious inherited disorders is important in differential diagnosis and is fundamental to the establishment of public health programmes for amelioration and prevention.

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Year:  1983        PMID: 6414096

Source DB:  PubMed          Journal:  S Afr Med J


  5 in total

Review 1.  Genetics of inherited cardiomyopathies in Africa.

Authors:  Gasnat Shaboodien; Timothy F Spracklen; Stephen Kamuli; Polycarp Ndibangwi; Carla Van Niekerk; Ntobeko A B Ntusi
Journal:  Cardiovasc Diagn Ther       Date:  2020-04

2.  Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Authors:  Su Jin Kim; Tadeusz Bieganski; Young Bae Sohn; Kazimierz Kozlowski; Mikhail Semënov; Nobuhiko Okamoto; Chi Hwa Kim; Ah-Ra Ko; Geung Hwan Ahn; Yoon-La Choi; Sung Won Park; Chang-Seok Ki; Ok-Hwa Kim; Gen Nishimura; Sheila Unger; Andrea Superti-Furga; Dong-Kyu Jin
Journal:  Hum Genet       Date:  2011-01-09       Impact factor: 4.132

3.  Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.

Authors:  E Leitersdorf; D R Van der Westhuyzen; G A Coetzee; H H Hobbs
Journal:  J Clin Invest       Date:  1989-09       Impact factor: 14.808

4.  Homozygous hereditary C3 deficiency due to a partial gene deletion.

Authors:  M Botto; K Y Fong; A K So; R Barlow; R Routier; B J Morley; M J Walport
Journal:  Proc Natl Acad Sci U S A       Date:  1992-06-01       Impact factor: 11.205

5.  Patterns of African and Asian admixture in the Afrikaner population of South Africa.

Authors:  N Hollfelder; J C Erasmus; R Hammaren; M Vicente; M Jakobsson; J M Greeff; C M Schlebusch
Journal:  BMC Biol       Date:  2020-02-24       Impact factor: 7.431

  5 in total

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