Microcephaly autosomal dominant

Common Name(s)

Microcephaly autosomal dominant

Microcephaly strictly means abnormally small head size, but usually refers to an occipitofrontal head circumference below -2 SD from the mean for the infant's gestational age, sex, and ethnic origin. Microcephaly may appear as an isolated trait or in association with other malformations. It may also be sporadic or familial. Some familial cases are autosomal dominant, but most appear to be recessive (see {251200}) (summary by {9:Merlob et al., 1988}).
 

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Condition Specific Organizations

Following organizations serve the condition "Microcephaly autosomal dominant" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Microcephaly autosomal dominant" returned 6 free, full-text research articles on human participants. First 3 results:

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
 

Author(s): Pia Ostergaard, Michael A Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona C Connell, Andreas van Impel, Anthony T Moore, Bart L Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Ines Martinez-Corral, Sophie Devery, Jules G Leroy, Lut van Laer, Amihood Singer, Martin G Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C Trembath, Stefan Schulte-Merker, Taija Makinen, Miikka Vikkula, Peter S Mortimer, Sahar Mansour, Steve Jeffery

Journal: Am. J. Hum. Genet.. 2012 Feb;90(2):356-62.

 

We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema ...

Last Updated: 13 Feb 2012

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Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome.
 

Author(s): I Casteels, K Devriendt, H Van Cleynenbreugel, P Demaerel, F De Tavernier, J P Fryns

Journal: Br J Ophthalmol. 2001 Apr;85(4):499-500.

 

Last Updated: 12 Apr 2001

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Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies.
 

Author(s): J W Innis, J H Asher, A K Poznanski, S Sheldon

Journal: Am. J. Med. Genet.. 1997 Aug;71(2):150-5.

 

We describe a family segregating an autosomal dominant mutation producing a syndrome comprising microcephaly with normal intelligence and short palpebral fissures together with variable signs including thumb hypoplasia, shortness of the middle phalanges of the second and fifth fingers, ...

Last Updated: 3 Sep 1997

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Reviews from the PubMed Database

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The terms "Microcephaly autosomal dominant" returned 0 free, full-text review articles on human participants.

 
 
 
 
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