Literature DB >> 11446420

Raine syndrome: report of a case with hand and foot anomalies.

T Mahafza1, H El-Shanti, H Omari.   

Abstract

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Mesh：

Year:  2001        PMID： 11446420     DOI： 10.1097/00019605-200107000-00015

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


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  5 in total

1.  Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Authors:  M A Simpson; R Hsu; L S Keir; J Hao; G Sivapalan; L M Ernst; E H Zackai; L I Al-Gazali; G Hulskamp; H M Kingston; T E Prescott; A Ion; M A Patton; V Murday; A George; A H Crosby
Journal:  Am J Hum Genet       Date:  2007-09-14       Impact factor: 11.025

2.  Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

Authors:  Ana Carolina Acevedo; James A Poulter; Priscila Gomes Alves; Caroline Lourenço de Lima; Luiz Claudio Castro; Paulo Marcio Yamaguti; Lilian M Paula; David A Parry; Clare V Logan; Claire E L Smith; Colin A Johnson; Chris F Inglehearn; Alan J Mighell
Journal:  BMC Med Genet       Date:  2015-02-21       Impact factor: 2.103

Review 3.  A case of Raine syndrome presenting with facial dysmorphy and review of literature.

Authors:  Jayesh Sheth; Riddhi Bhavsar; Ajit Gandhi; Frenny Sheth; Dhairya Pancholi
Journal:  BMC Med Genet       Date:  2018-05-11       Impact factor: 2.103

4.  Two Novel FAM20C Variants in A Family with Raine Syndrome.

Authors:  Araceli Hernández-Zavala; Fernando Cortés-Camacho; Icela Palma Lara; Ricardo Godinez-Aguilar; Ana María Espinosa-García; Javier Pérez-Durán; Patricia Villanueva-Ocampo; Carlos Ugarte-Briones; Carlos Alberto Serrano-Bello; Paula Sanchez-Santiago; José Bonilla-Delgado; Marco Antonio Yañez-López; Georgina Victoria-Acosta; Adolfo López-Ornelas; Patricia García Alonso-Themann; José Moreno; Carmen Palacios-Reyes
Journal:  Genes (Basel)       Date:  2020-02-20       Impact factor: 4.096

5.  Natural history of non-lethal Raine syndrome during childhood.

Authors:  Chiara Mameli; Giulia Zichichi; Nasim Mahmood; Siham Chafai Elalaoui; Adnan Mirza; Poonam Dharmaraj; Marco Burrone; Elisa Cattaneo; Jayesh Sheth; Ajit Gandhi; Gurpreet Singh Kochar; Fowzan Sami Alkuraya; Madhulika Kabra; Giuseppe Mercurio; Gianvincenzo Zuccotti
Journal:  Orphanet J Rare Dis       Date:  2020-04-16       Impact factor: 4.123
  5 in total

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