Literature DB >> 21626675

Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.

Oscar F Chacon-Camacho1, Johanna Vázquez, Juan C Zenteno.   

Abstract

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, hypertrichosis, intellectual disability, and absence and/or hypoplasia of the nails or terminal phalanges of the hands and feet. The syndromic features of ZLS are highly variable and can overlap with other entities featuring gingival fibrosis. This study describes a patient with ZLS with novel findings, including colpocephaly, hemivertebra, polydactyly, hyperpigmentation, and hemihyperplasia. Thus, the present report expands the phenotypic spectrum of this uncommon syndrome.
Copyright © 2011 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  2011        PMID: 21626675     DOI: 10.1002/ajmg.a.34030

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


  6 in total

1.  Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

Authors:  Christiane K Bauer; Pauline E Schneeberger; Fanny Kortüm; Janine Altmüller; Fernando Santos-Simarro; Laura Baker; Jennifer Keller-Ramey; Susan M White; Philippe M Campeau; Karen W Gripp; Kerstin Kutsche
Journal:  Am J Hum Genet       Date:  2019-05-30       Impact factor: 11.025

Review 2.  Intellectual Disability: When the Hypertrichosis Is a Clue.

Authors:  Lidia Pezzani; Donatella Milani; Gianluca Tadini
Journal:  J Pediatr Genet       Date:  2015-09-28

3.  '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

Review 4.  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 5.  Gingival fibromatosis: clinical, molecular and therapeutic issues.

Authors:  Katarzyna Gawron; Katarzyna Łazarz-Bartyzel; Jan Potempa; Maria Chomyszyn-Gajewska
Journal:  Orphanet J Rare Dis       Date:  2016-01-27       Impact factor: 4.123

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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