Literature DB >> 10826636

Growth deficiency, mental retardation and unusual facies.

C E Steiner, A P Marques.   

Abstract

An 8-year-old girl with growth deficiency, mental retardation, unusual facies and hypertrichosis is described. The case is compared with one described by Wiedemann et al. [(1989) Atlas of Clinical Syndromes, 2nd ed. London: Wolfe Publishing pp. 198-199].

Entities:  

Mesh：

Year:  2000        PMID： 10826636     DOI： 10.1097/00019605-200009020-00021

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


  15 in total

1.  Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.

Authors:  Dora Steel; Vincenzo Salpietro; Rahul Phadke; Matthew Pitt; Giulia Gentile; Ahmed Massoud; Leigh Batten; Anu Bashamboo; Ken Mcelreavey; Anand Saggar; Maria Kinali
Journal:  J Genet       Date:  2015-12       Impact factor: 1.166

2.  Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features.

Authors:  Kursat Bora Carman; Emre Kaplan; Cefa Nil Aslan; Sinem Kocagil; Oguz Cilinigr; Coskun Yarar
Journal:  J Pediatr Genet       Date:  2020-09-23

3.  De novo mutations in MLL cause Wiedemann-Steiner syndrome.

Authors:  Wendy D Jones; Dimitra Dafou; Meriel McEntagart; Wesley J Woollard; Frances V Elmslie; Muriel Holder-Espinasse; Melita Irving; Anand K Saggar; Sarah Smithson; Richard C Trembath; Charu Deshpande; Michael A Simpson
Journal:  Am J Hum Genet       Date:  2012-07-12       Impact factor: 11.025

4.  A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report.

Authors:  Minghui Chen; Ruihong Liu; Chao Wu; Xunhua Li; Yiming Wang
Journal:  Mol Biol Rep       Date:  2019-06-27       Impact factor: 2.316

Review 5.  Interplay between chromatin marks in development and disease.

Authors:  Sanne M Janssen; Matthew C Lorincz
Journal:  Nat Rev Genet       Date:  2021-10-04       Impact factor: 53.242

6.  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Authors:  Sarah E Sheppard; Ian M Campbell; Margaret H Harr; Nina Gold; Dong Li; Hans T Bjornsson; Julie S Cohen; Jill A Fahrner; Ali Fatemi; Jacqueline R Harris; Catherine Nowak; Cathy A Stevens; Katheryn Grand; Margaret Au; John M Graham; Pedro A Sanchez-Lara; Miguel Del Campo; Marilyn C Jones; Omar Abdul-Rahman; Fowzan S Alkuraya; Jennifer A Bassetti; Katherine Bergstrom; Elizabeth Bhoj; Sarah Dugan; Julie D Kaplan; Nada Derar; Karen W Gripp; Natalie Hauser; A Micheil Innes; Beth Keena; Neslida Kodra; Rebecca Miller; Beverly Nelson; Malgorzata J Nowaczyk; Zuhair Rahbeeni; Shay Ben-Shachar; Joseph T Shieh; Anne Slavotinek; Andrew K Sobering; Mary-Alice Abbott; Dawn C Allain; Louise Amlie-Wolf; Ping Yee Billie Au; Emma Bedoukian; Geoffrey Beek; James Barry; Janet Berg; Jonathan A Bernstein; Cheryl Cytrynbaum; Brian Hon-Yin Chung; Sarah Donoghue; Naghmeh Dorrani; Alison Eaton; Josue A Flores-Daboub; Holly Dubbs; Carolyn A Felix; Chin-To Fong; Jasmine Lee Fong Fung; Balram Gangaram; Amy Goldstein; Rotem Greenberg; Thoa K Ha; Joseph Hersh; Kosuke Izumi; Staci Kallish; Elijah Kravets; Pui-Yan Kwok; Rebekah K Jobling; Amy E Knight Johnson; Jessica Kushner; Bo Hoon Lee; Brooke Levin; Kristin Lindstrom; Kandamurugu Manickam; Rebecca Mardach; Elizabeth McCormick; D Ross McLeod; Frank D Mentch; Kelly Minks; Colleen Muraresku; Stanley F Nelson; Patrizia Porazzi; Pavel N Pichurin; Nina N Powell-Hamilton; Zoe Powis; Alyssa Ritter; Caleb Rogers; Luis Rohena; Carey Ronspies; Audrey Schroeder; Zornitza Stark; Lois Starr; Joan Stoler; Pim Suwannarat; Milen Velinov; Rosanna Weksberg; Yael Wilnai; Neda Zadeh; Dina J Zand; Marni J Falk; Hakon Hakonarson; Elaine H Zackai; Fabiola Quintero-Rivera
Journal:  Am J Med Genet A       Date:  2021-03-30       Impact factor: 2.578

Review 7.  Reprogramming of the epigenome in neurodevelopmental disorders.

Authors:  Khadija D Wilson; Elizabeth G Porter; Benjamin A Garcia
Journal:  Crit Rev Biochem Mol Biol       Date:  2021-10-02       Impact factor: 8.697

8.  Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome.

Authors:  George Stoyle; Siddharth Banka; Claire Langley; Elizabeth A Jones; Indraneel Banerjee
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2018-08-23

9.  Discovery of MLL1 binding units, their localization to CpG Islands, and their potential function in mitotic chromatin.

Authors:  Minou Bina; Phillip Wyss; Elise Novorolsky; Noorfatin Zulkelfi; Jing Xue; Randi Price; Matthew Fay; Zach Gutmann; Brian Fogler; Daidong Wang
Journal:  BMC Genomics       Date:  2013-12-28       Impact factor: 3.969

10.  Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.

Authors:  Niu Li; Yirou Wang; Yu Yang; Pengpeng Wang; Hui Huang; Shiyi Xiong; Luming Sun; Min Cheng; Cui Song; Xinran Cheng; Yu Ding; Guoying Chang; Yao Chen; Yufei Xu; Tingting Yu; Ru-En Yao; Yiping Shen; Xiumin Wang; Jian Wang
Journal:  Orphanet J Rare Dis       Date:  2018-10-11       Impact factor: 4.123
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