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ALLMedicine™ Acromelic Frontonasal Dysostosis Center

Research & Reviews  5 results

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disabilit...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812890
American Journal of Human Genetics; Palmer EE, Kumar R et. al.

Dec 4th, 2017 - A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated wit...

Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulat...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5703052
Neurobiology of Disease; Tischfield DJ, Saraswat DK et. al.

Apr 23rd, 2017 - The zinc-finger SWIM domain-containing protein 6 (ZSWIM6) is a protein of unknown function that has been associated with schizophrenia and limited educational attainment by three independent genome-wide association studies. Additionally, a putativ...

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025718
Clinical Genetics; Twigg SR, Ousager LB et. al.

Dec 26th, 2015 - Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unkno...

Acromelic frontonasal dysostosis
https://rarediseases.info.nih.gov/diseases/5539/acromelic-frontonasal-dysostosis

Aug 31st, 2015 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1827 Definition A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelori...

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromel...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129399
American Journal of Human Genetics; Smith JD, Hing AV et. al.

Aug 11th, 2014 - Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial...

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Clinicaltrials.gov  5 results

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disabilit...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812890
American Journal of Human Genetics; Palmer EE, Kumar R et. al.

Dec 4th, 2017 - A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated wit...

Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulat...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5703052
Neurobiology of Disease; Tischfield DJ, Saraswat DK et. al.

Apr 23rd, 2017 - The zinc-finger SWIM domain-containing protein 6 (ZSWIM6) is a protein of unknown function that has been associated with schizophrenia and limited educational attainment by three independent genome-wide association studies. Additionally, a putativ...

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025718
Clinical Genetics; Twigg SR, Ousager LB et. al.

Dec 26th, 2015 - Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unkno...

Acromelic frontonasal dysostosis
https://rarediseases.info.nih.gov/diseases/5539/acromelic-frontonasal-dysostosis

Aug 31st, 2015 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1827 Definition A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelori...

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromel...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129399
American Journal of Human Genetics; Smith JD, Hing AV et. al.

Aug 11th, 2014 - Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial...

see more →