KPTN基因中的致病变异，是巨头畸形和智力残疾的罕见病因。 - Suppr

Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.

作者信息

Pacio Miguez Marta, Santos-Simarro Fernando, García-Miñaúr Sixto, Velázquez Fragua Ramón, Del Pozo Ángela, Solís Mario, Jiménez Rodríguez Carmen, Rufo-Rabadán Virginia, Fernandez Victoria Eugenia, Rueda Inmaculada, Gomez Del Pozo Maria Victoria, Gallego Natividad, Lapunzina Pablo, Palomares-Bralo María

机构信息

Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain.

CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.

出版信息

Am J Med Genet A. 2020 Oct;182(10):2222-2225. doi: 10.1002/ajmg.a.61778. Epub 2020 Aug 18.

DOI:10.1002/ajmg.a.61778

PMID:32808430

Abstract

摘要

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Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.

Am J Med Genet A. 2020 Oct;182(10):2222-2225. doi: 10.1002/ajmg.a.61778. Epub 2020 Aug 18.

KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report.

Am J Med Genet A. 2020 Apr;182(4):762-767. doi: 10.1002/ajmg.a.61492. Epub 2020 Jan 30.

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Am J Med Genet A. 2015 Aug;167A(8):1913-5. doi: 10.1002/ajmg.a.37105. Epub 2015 Apr 5.

Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly.

Seizure. 2019 Jul;69:296-297. doi: 10.1016/j.seizure.2019.05.015. Epub 2019 May 19.

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Am J Med Genet A. 2021 Oct;185(10):3083-3091. doi: 10.1002/ajmg.a.62370. Epub 2021 Jun 1.

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Am J Med Genet A. 2013 Aug;161A(8):2016-9. doi: 10.1002/ajmg.a.35999. Epub 2013 Jun 21.

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.

Eur J Med Genet. 2017 Apr;60(4):212-216. doi: 10.1016/j.ejmg.2017.01.004. Epub 2017 Jan 24.

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Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.

作者信息

机构信息

Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain.

CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.

出版信息

Am J Med Genet A. 2020 Oct;182(10):2222-2225. doi: 10.1002/ajmg.a.61778. Epub 2020 Aug 18.

DOI:10.1002/ajmg.a.61778

PMID:32808430

Abstract

摘要

Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.

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机构信息

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Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.

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