Literature DB >> 18203178

A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).

Michael T Gabbett1, Ronald C Clark, Julie M McGaughran.   

Abstract

We present a case of a male with severe mental retardation, seizure disorder, and absence/hypoplasia of the thumb and great toe nails. This combination of clinical findings has been reported only once previously. We suggest it represents a distinct syndrome. Our case has the additional finding of broad thumbs.

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Mesh：

Year:  2008        PMID： 18203178     DOI： 10.1002/ajmg.a.32129

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  6 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

Review 3.  Eag1 K+ Channel: Endogenous Regulation and Functions in Nervous System.

Authors:  Bo Han; Tursonjan Tokay; Guangming Zhang; Peng Sun; Shangwei Hou
Journal:  Oxid Med Cell Longev       Date:  2017-03-06       Impact factor: 6.543

Review 4.  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.  Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

Authors:  André Mégarbané; Rashid Al-Ali; Nancy Choucair; Monko Lek; Ena Wang; Moncef Ladjimi; Catherine M Rose; Remy Hobeika; Yvette Macary; Ramzi Temanni; Puthen V Jithesh; Aouatef Chouchane; Konduru S Sastry; Remy Thomas; Sara Tomei; Wei Liu; Francesco M Marincola; Daniel MacArthur; Lotfi Chouchane
Journal:  BMC Med Genet       Date:  2016-06-10       Impact factor: 2.103

6.  Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.

Authors:  Karen W Gripp; Sarah F Smithson; Ingrid J Scurr; Julia Baptista; Anirban Majumdar; Germaine Pierre; Maggie Williams; Lindsay B Henderson; Ingrid M Wentzensen; Heather McLaughlin; Lisette Leeuwen; Marleen E H Simon; Ellen van Binsbergen; Mary Beth P Dinulos; Julie D Kaplan; Anne McRae; Andrea Superti-Furga; Jean-Marc Good; Kerstin Kutsche
Journal:  Eur J Hum Genet       Date:  2021-02-16       Impact factor: 4.246
  6 in total

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