Literature DB >> 16435219

A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate.

O Lohi1, A L Kuusela, M Arola.   

Abstract

Pearson syndrome is a rare multiorgan mitochondrial disorder that causes substantial disability and usually leads to premature death. We describe an infant with Pearson syndrome who showed, in addition to the typical features of the syndrome, cleft lip and palate and hypospadias.

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Year:  2005        PMID： 16435219     DOI： 10.1007/s10545-005-0075-0

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

1.  Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome.

Authors:  A Rotig; M Colonna; J P Bonnefont; S Blanche; A Fischer; J M Saudubray; A Munnich
Journal:  Lancet       Date:  1989-04-22       Impact factor: 79.321

2.  Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

Authors:  A Rötig; T Bourgeron; D Chretien; P Rustin; A Munnich
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150

3.  A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.

Authors:  H A Pearson; J S Lobel; S A Kocoshis; J L Naiman; J Windmiller; A T Lammi; R Hoffman; J C Marsh
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406
  3 in total
  2 in total

1.  Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome.

Authors:  Josef Finsterer; Fulvio A Scorza; Carla A Scorza
Journal:  Med Arch       Date:  2018-06

2.  Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  Neuropsychiatr Dis Treat       Date:  2017-10-06       Impact factor: 2.570
  2 in total

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