Literature DB >> 9001812

Desbuquois syndrome in an Arab Bedouin family.

L I al-Gazeli1, S A Aziz, D Bakalinova.   

Abstract

We report a consanguineous Arab Bedouin family with Desbuquois syndrome, an AR syndrome of a midface hypoplasia and joint laxity. We believe this is the first report of this syndrome in Arab Bedouins.

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Year:  1996        PMID： 9001812     DOI： 10.1111/j.1399-0004.1996.tb02639.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  2 in total

1.  Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

Authors:  Franco Laccone; Katharina Schoner; Birgit Krabichler; Britta Kluge; Robin Schwerdtfeger; Bernt Schulze; Johannes Zschocke; Helga Rehder
Journal:  Eur J Hum Genet       Date:  2011-06-08       Impact factor: 4.246

2.  First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

Authors:  Manal M Thomas; Engy A Ashaat; Ghada A Otaify; Samira Ismail; Mona L Essawi; Mohamed S Abdel-Hamid; Heba A Hassan; Sonia A Alsaiedi; Mona Aglan; Mona O El Ruby; Samia Temtamy
Journal:  Mol Syndromol       Date:  2021-07-22
  2 in total

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