Literature DB >> 26806203

Infantile Systemic Hyalinosis with Mutation in ANTXR2.

Dhanya Lakshmi Narayanan1, Shubha R Phadke2.   

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Year:  2016        PMID： 26806203     DOI： 10.1007/s12098-015-1990-1

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


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  5 in total

1.  Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

Authors:  S M Al-Mayouf; A AlMehaidib; S Bahabri; S Shabib; N Sakati; A S Teebi
Journal:  Clin Exp Rheumatol       Date:  2005 Sep-Oct       Impact factor: 4.473

2.  Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis.

Authors:  G Y El-Kamah; K Fong; M El-Ruby; H H Afifi; S E Clements; J E Lai-Cheong; K Amr; M El-Darouti; J A McGrath
Journal:  Br J Dermatol       Date:  2010-03-17       Impact factor: 9.302

Review 3.  Infantile systemic hyalinosis presenting as intractable infantile diarrhea.

Authors:  Luluah Al-Mubarak; Abdulkarim Al-Makadma; Sultan Al-Khenaizan
Journal:  Eur J Pediatr       Date:  2008-06-18       Impact factor: 3.183

4.  Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Authors:  Sandra Hanks; Sarah Adams; Jenny Douglas; Laura Arbour; David J Atherton; Sevim Balci; Harald Bode; Mary E Campbell; Murray Feingold; Gökhan Keser; Wim Kleijer; Grazia Mancini; John A McGrath; Francesco Muntoni; Arti Nanda; M Dawn Teare; Matthew Warman; F Michael Pope; Andrea Superti-Furga; P Andrew Futreal; Nazneen Rahman
Journal:  Am J Hum Genet       Date:  2003-08-21       Impact factor: 11.025

5.  Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis.

Authors:  B H Landing; R Nadorra
Journal:  Pediatr Pathol       Date:  1986
  5 in total
  2 in total

1.  Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in Jodhpur.

Authors:  Jai Prakash Soni; Ratna D Puri; Kapil Jetha; G S L Bhavani; Monika Chaudhary; Sudha Kohli; I C Verma
Journal:  Indian J Pediatr       Date:  2016-10-18       Impact factor: 1.967

2.  Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.

Authors:  Zahraa Haidar; Ramzi Temanni; Eliane Chouery; Puthen Jithesh; Wei Liu; Rashid Al-Ali; Ena Wang; Francesco M Marincola; Nadine Jalkh; Soha Haddad; Wassim Haidar; Lotfi Chouchane; André Mégarbané
Journal:  BMC Genet       Date:  2017-01-19       Impact factor: 2.797
  2 in total

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