Literature DB >> 9134293

Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay--a new autosomal dominant disorder?

S A Lynch1, D Gardner-Medwin, J Burn, K M Bushby.   

Abstract

We report a mother and two sons with developmental delay, absent nails and an abnormal gait. Review of the literature did not reveal another report of this distinctive pattern of malformations. This family appears to represent a previously undescribed neurogenetic syndrome.

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Year:  1997        PMID: 9134293

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  2 in total

1.  'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Authors:  Nuria C Bramswig; C W Ockeloen; J C Czeschik; A J van Essen; R Pfundt; J Smeitink; B T Poll-The; H Engels; T M Strom; D Wieczorek; T Kleefstra; H-J Lüdecke
Journal:  Hum Genet       Date:  2015-08-12       Impact factor: 4.132

2.  Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes.

Authors:  Joseph J Shen
Journal:  Clin Dysmorphol       Date:  2015-04       Impact factor: 0.816

  2 in total

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