Literature DB >> 21743113

DOOR syndrome.

Meenakshi Girish1, Nilofer Mujawar, Atul Salodkar.   

Abstract

DOOR syndrome is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and mental retardation. Seizures reported frequently in this condition are often refractory to treatment.

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Mesh：

Year:  2011        PMID： 21743113     DOI： 10.1007/s13312-011-0068-z

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN： 0019-6061            Impact factor:   1.411


  3 in total

1.  Absence of Nails, Deaf-mutism, Seizures, and Intellectual Disability: A Case Report.

Authors:  Lal Devayanivasudevan Nair; Benjamin Sagayaraj; Radha Kumar
Journal:  J Clin Diagn Res       Date:  2015-04-01

2.  The genetic basis of DOORS syndrome: an exome-sequencing study.

Authors:  Philippe M Campeau; Dalia Kasperaviciute; James T Lu; Lindsay C Burrage; Choel Kim; Mutsuki Hori; Berkley R Powell; Fiona Stewart; Têmis Maria Félix; Jenneke van den Ende; Marzena Wisniewska; Hülya Kayserili; Patrick Rump; Sheela Nampoothiri; Salim Aftimos; Antje Mey; Lal D V Nair; Michael L Begleiter; Isabelle De Bie; Girish Meenakshi; Mitzi L Murray; Gabriela M Repetto; Mahin Golabi; Edward Blair; Alison Male; Fabienne Giuliano; Ariana Kariminejad; William G Newman; Sanjeev S Bhaskar; Jonathan E Dickerson; Bronwyn Kerr; Siddharth Banka; Jacques C Giltay; Dagmar Wieczorek; Anna Tostevin; Joanna Wiszniewska; Sau Wai Cheung; Raoul C Hennekam; Richard A Gibbs; Brendan H Lee; Sanjay M Sisodiya
Journal:  Lancet Neurol       Date:  2013-11-29       Impact factor: 44.182

3.  Doors Syndrome: Case Report.

Authors:  Dua Cebeci; Didem Rıfkı
Journal:  Indian J Dermatol       Date:  2022 Mar-Apr       Impact factor: 1.757
  3 in total

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