Literature DB >> 8912606

Richner-Hanhart syndrome: importance of early diagnosis and early intervention.

T M Tallab1.   

Abstract

Fewer than 100 cases of Richner-Hanhart syndrome have been reported. We describe two additional patients who have the classic clinical, biochemical, and microscopic features of this syndrome.

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Year:  1996        PMID： 8912606     DOI： 10.1016/s0190-9622(96)90104-8

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


  3 in total

1.  Richner Hanhart syndrome.

Authors:  Lalitha Janakiraman; Malathi Sathiyasekaran; Munirathiram Deenadayalan; Ramaswamy Ganesh; Uma Mahesh
Journal:  Indian J Pediatr       Date:  2006-02       Impact factor: 1.967

2.  TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

Authors:  G Maydan; B S Andresen; P P Madsen; M Zeigler; A Raas-Rothschild; A Zlotogorski; A Gutman; S H Korman
Journal:  J Inherit Metab Dis       Date:  2006-08-17       Impact factor: 4.982

3.  Plantar keratoderma: a manifestation of tyrosinemia type II (Richner-Hanhart syndrome).

Authors:  Jihad T Al-Ratrout; Mohammed Al-Muzian; Mona Al-Nazer; Naseem A Ansari
Journal:  Ann Saudi Med       Date:  2005 Sep-Oct       Impact factor: 1.526
  3 in total

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