Literature DB >> 18263975

A new case of DOOR syndrome.

Marzena Wiśniewska1, Zofia Siwińska, Michał Felczak, Tomasz Wielkoszyński, Maciej Krawczyński, Anna Latos-Bieleńska.   

Abstract

We present the case of a 9-year-old boy with DOOR syndrome recognized in the first year of his life because of a delayed development of speech. The diagnosis was based on characteristic abnormalities, including congenital deafness, nail and bone abnormalities, and mild mental retardation.

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Year:  2008        PMID： 18263975     DOI： 10.1007/BF03195254

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


  9 in total

1.  DOOR syndrome: report of three additional cases.

Authors:  Têmis Maria Félix; Simone de Menezes Karam; Valter Augusto Della Rosa; Ana Maria S Machado Moraes
Journal:  Clin Dysmorphol       Date:  2002-04       Impact factor: 0.816

2.  DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex.

Authors:  Sankar Surendran; Kimberlee Michals-Matalon; Stephan Krywawych; Qutub H Qazi; Roberto Tuchman; Peter L Rady; Stephan K Tyring; Reuben Matalon
Journal:  Am J Med Genet       Date:  2002-12-15

3.  Congenital deafness associated with onychodystrophy.

Authors:  M FEINMESSER; S ZELIG
Journal:  Arch Otolaryngol       Date:  1961-11

4.  Congenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. syndrome).

Authors:  R J Cantwell
Journal:  Humangenetik       Date:  1975

5.  Hereditary congenital deafness with onychodystrophy.

Authors:  R M Goodman; S Lockareff; G Gwinup
Journal:  Arch Otolaryngol       Date:  1969-10

6.  Further delineation of the DOOR syndrome.

Authors:  A Rajab; A Riaz; G Paul; S Al-Khusaibi; R Chalmers; M A Patton
Journal:  Clin Dysmorphol       Date:  2000-10       Impact factor: 0.816

Review 7.  DOOR syndrome: additional case and literature review.

Authors:  C J Bos; P F Ippel; F A Beemer
Journal:  Clin Dysmorphol       Date:  1994-01       Impact factor: 0.816

8.  DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.

Authors:  M A Patton; S Krywawych; R M Winter; D P Brenton; M Baraitser
Journal:  Am J Med Genet       Date:  1987-01

9.  DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases.

Authors:  H J Lin; E D Kakkis; D J Eteson; R S Lachman
Journal:  Am J Med Genet       Date:  1993-09-15
  9 in total
  1 in total

1.  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
  1 in total

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