Literature DB >> 6707793

Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome.

Q H Qazi, B S Nangia.   

Abstract

A 10-year-old boy and his 9-year-old sister, with abnormalities of distal phalanges of hands and feet, onychodystrophy, deafness, mental retardation, seizure disorder, and abnormal dermatoglyphics, are described. Six similarly affected patients have been reported. These eight patients represent a new syndrome, which is inherited as an autosomal recessive trait.

Entities:  

Mesh：

Year:  1984        PMID： 6707793     DOI： 10.1016/s0022-3476(84)81101-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  5 in total

1.  Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Authors:  Thi Tuyet Mai Nguyen; Yoshiko Murakami; Kristen M Wigby; Nissan V Baratang; Justine Rousseau; Anik St-Denis; Jill A Rosenfeld; Stephanie C Laniewski; Julie Jones; Alejandro D Iglesias; Marilyn C Jones; Diane Masser-Frye; Angela E Scheuerle; Denise L Perry; Ryan J Taft; Françoise Le Deist; Miles Thompson; Taroh Kinoshita; Philippe M Campeau
Journal:  Am J Hum Genet       Date:  2018-09-27       Impact factor: 11.025

Review 2.  Triphalangeal thumb.

Authors:  Q Qazi; E G Kassner
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

3.  The Coffin-Siris syndrome.

Authors:  Q H Qazi; L S Heckman; D Markouizos; R S Verma
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

4.  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

Review 5.  Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.

Authors:  Xue Gao; Pu Dai; Yong-Yi Yuan
Journal:  Hum Genet       Date:  2021-07-07       Impact factor: 4.132
  5 in total

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