Literature DB >> 17300268

Infantile systemic hyalinosis: a case report and mutation analysis in a Chinese infant.

Y-C Huang, Y-Y Xiao, Y-H Zheng, W Jang, Y-L Yang, X-J Zhu.   

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Year:  2007        PMID： 17300268     DOI： 10.1111/j.1365-2133.2006.07701.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  7 in total

1.  Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

Authors:  Rafael Denadai; Cassio E Raposo-Amaral; Débora Bertola; Chong Kim; Nivaldo Alonso; Thomas Hart; Sangwoo Han; Rafael F Stelini; Celso L Buzzo; Cesar A Raposo-Amaral; P Suzanne Hart
Journal:  Am J Med Genet A       Date:  2012-03-01       Impact factor: 2.802

2.  Clinical and imaging findings of systemic hyalinosis: two cases presenting with congenital arthrogryposis.

Authors:  So-Young Yoo; Ji Hye Kim; Ho Seok Kang; Yong Seung Hwang; Ki Joong Kim; In-One Kim; Jung-Eun Cheon; Su-Mi Shin; Chong Jai Kim; Jee Hun Lee; Mun Hyang Lee; Jong Hee Chae
Journal:  Skeletal Radiol       Date:  2010-02-06       Impact factor: 2.199

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.  Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease.

Authors:  Prarthana Sameer Kalgaonkar; Minal Wade; Charusheela Warke; Meena Makhecha; Manisha Khare
Journal:  J Clin Diagn Res       Date:  2017-07-01

5.  Infantile systemic hyalinosis in identical twins.

Authors:  Mahesh Kumar Koonuru; Satya Prasad Venugopal
Journal:  Intractable Rare Dis Res       Date:  2015-11

6.  Infantile systemic hyalinosis: A case report and review of literature.

Authors:  Bhushan Madke; Vidya Kharkar; Sunanda Mahajan; Siddhi Chikhalkar; Uday Khopkar
Journal:  Indian Dermatol Online J       Date:  2010-07

7.  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
  7 in total

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