Literature DB >> 29327272

Protein Losing Enteropathy in Hennekam Syndrome.

Phani Priya Mandula1, Rohan Malik2, Gaurav Khanna3.   

Abstract

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Year:  2018        PMID： 29327272     DOI： 10.1007/s12098-017-2602-z

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  2 in total

1.  Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.

Authors:  R C Hennekam; R A Geerdink; B C Hamel; F A Hennekam; P Kraus; J A Rammeloo; A A Tillemans
Journal:  Am J Med Genet       Date:  1989-12

2.  Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Authors:  Mariëlle Alders; Lihadh Al-Gazali; Isabelle Cordeiro; Bruno Dallapiccola; Livia Garavelli; Beyhan Tuysuz; Faranak Salehi; Martin A Haagmans; Olaf R Mook; Charles B Majoie; Marcel M Mannens; Raoul C Hennekam
Journal:  Hum Genet       Date:  2014-06-07       Impact factor: 4.132
  2 in total

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