Literature DB >> 27617126

Intellectual Disability: When the Hypertrichosis Is a Clue.

Lidia Pezzani1, Donatella Milani2, Gianluca Tadini3.   

Abstract

The skin and the central and peripheral nervous system both derive from the ectoderm ridge. Therefore, several syndromes characterized by the presence of intellectual disability (ID) can be associated with specific congenital cutaneous manifestations. In this review, we list some of the most frequent diseases characterized by the presence of ID associated with hirsutism, which might be an incentive for the clinicians to pay attention to the ectodermal annexes in patients with ID.

Entities:  

Keywords:  hair; hirsutism; hypertrichosis; intellectual disability

Year:  2015        PMID： 27617126      PMCID： PMC4918720          DOI： 10.1055/s-0035-1564442

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  61 in total

1.  Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome.

Authors:  Klaus Sarimski
Journal:  J Commun Disord       Date:  2002 Nov-Dec       Impact factor: 2.288

2.  The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Authors:  Samantha A Schrier; Joann N Bodurtha; Barbara Burton; Albert E Chudley; Mary Anne D Chiong; Maria Gabriella D'avanzo; Sally Ann Lynch; Antonio Musio; Dmitriy M Nyazov; Pedro A Sanchez-Lara; Stavit A Shalev; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

3.  Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

Authors:  N Miyake; Y Tsurusaki; E Koshimizu; N Okamoto; T Kosho; N J Brown; T Y Tan; P J J Yap; H Suzumura; T Tanaka; T Nagai; M Nakashima; H Saitsu; N Niikawa; N Matsumoto
Journal:  Clin Genet       Date:  2015-04-14       Impact factor: 4.438

4.  Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

Authors:  K D MacDermot; M A Patton; M J Williams; R M Winter
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

5.  Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.

Authors:  Shozo Honda; Koji O Orii; Junya Kobayashi; Shin Hayashi; Atsushi Imamura; Issei Imoto; Eiji Nakagawa; Yu-ichi Goto; Johji Inazawa
Journal:  J Hum Genet       Date:  2010-03-26       Impact factor: 3.172

6.  Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

Authors:  B Budny; M Badura-Stronka; A Materna-Kiryluk; A Tzschach; M Raynaud; A Latos-Bielenska; H H Ropers
Journal:  Clin Genet       Date:  2010-04-19       Impact factor: 4.438

Review 7.  Neurodermatology.

Authors:  Jean-Philippe Neau; Gaëlle Godeneche; Stéphane Mathis; Gérard Guillet
Journal:  Handb Clin Neurol       Date:  2014

8.  Descriptive epidemiology of Cornelia de Lange syndrome in Europe.

Authors:  Ingeborg Barisic; Visnja Tokic; Maria Loane; Fabrizio Bianchi; Eliza Calzolari; Ester Garne; Diana Wellesley; Helen Dolk
Journal:  Am J Med Genet A       Date:  2008-01-01       Impact factor: 2.802

9.  De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Authors:  María Concepción Gil-Rodríguez; Matthew A Deardorff; Morad Ansari; Christopher A Tan; Ilaria Parenti; Carolina Baquero-Montoya; Lilian B Ousager; Beatriz Puisac; María Hernández-Marcos; María Esperanza Teresa-Rodrigo; Iñigo Marcos-Alcalde; Jan-Jaap Wesselink; Silvia Lusa-Bernal; Emilia K Bijlsma; Diana Braunholz; Inés Bueno-Martinez; Dinah Clark; Nicola S Cooper; Cynthia J Curry; Richard Fisher; Alan Fryer; Jaya Ganesh; Cristina Gervasini; Gabriele Gillessen-Kaesbach; Yiran Guo; Hakon Hakonarson; Robert J Hopkin; Maninder Kaur; Brendan J Keating; María Kibaek; Esther Kinning; Tjitske Kleefstra; Antonie D Kline; Ekaterina Kuchinskaya; Lidia Larizza; Yun R Li; Xuanzhu Liu; Milena Mariani; Jonathan D Picker; Ángeles Pié; Jelena Pozojevic; Ethel Queralt; Julie Richer; Elizabeth Roeder; Anubha Sinha; Richard H Scott; Joyce So; Katherine A Wusik; Louise Wilson; Jianguo Zhang; Paulino Gómez-Puertas; César H Casale; Lena Ström; Angelo Selicorni; Feliciano J Ramos; Laird G Jackson; Ian D Krantz; Soma Das; Raoul C M Hennekam; Frank J Kaiser; David R FitzPatrick; Juan Pié
Journal:  Hum Mutat       Date:  2015-03-17       Impact factor: 4.878

10.  De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

Authors:  Samuel P Strom; Reymundo Lozano; Hane Lee; Naghmeh Dorrani; John Mann; Patricia F O'Lague; Nicole Mans; Joshua L Deignan; Eric Vilain; Stanley F Nelson; Wayne W Grody; Fabiola Quintero-Rivera
Journal:  BMC Med Genet       Date:  2014-05-01       Impact factor: 2.103
View more
  2 in total

1.  RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.

Authors:  Léo Mietton; Nicolas Lebrun; Irina Giurgea; Alice Goldenberg; Benjamin Saintpierre; Juliette Hamroune; Alexandra Afenjar; Pierre Billuart; Thierry Bienvenu
Journal:  Neuromolecular Med       Date:  2018-07-16       Impact factor: 3.843

2.  Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.

Authors:  Giulia Pascolini; Federica Gaudioso; Chiara Passarelli; Antonio Novelli; Niccolò Di Giosaffatte; Silvia Majore; Paola Grammatico
Journal:  J Mol Neurosci       Date:  2021-07-05       Impact factor: 3.444
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.