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A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate.
J Inherit Metab Dis. 2005; 28(6):1165-6.JI

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.

Authors+Show Affiliations

Lohi O
Paediatric Research Centre, Tampere University Hospital, Tampere, Finland. olli.lohi@uta.fi
Kuusela AL
No affiliation info available
Arola M
No affiliation info available

MeSH

Abnormalities, MultipleCleft LipCleft PalateDNA, MitochondrialGene DeletionHumansHypospadiasInfantMaleMetabolism, Inborn ErrorsMitochondrial DiseasesPsychomotor DisordersSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16435219

Citation

Lohi, O, et al. "A Novel Deletion in a Pearson Syndrome Infant With Hypospadias and Cleft Lip and Palate." Journal of Inherited Metabolic Disease, vol. 28, no. 6, 2005, pp. 1165-6.
Lohi O, Kuusela AL, Arola M. A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate. J Inherit Metab Dis. 2005;28(6):1165-6.
Lohi, O., Kuusela, A. L., & Arola, M. (2005). A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate. Journal of Inherited Metabolic Disease, 28(6), 1165-6.
Lohi O, Kuusela AL, Arola M. A Novel Deletion in a Pearson Syndrome Infant With Hypospadias and Cleft Lip and Palate. J Inherit Metab Dis. 2005;28(6):1165-6. PubMed PMID: 16435219.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate. AU - Lohi,O, AU - Kuusela,A L, AU - Arola,M, PY - 2006/1/26/pubmed PY - 2006/7/6/medline PY - 2006/1/26/entrez SP - 1165 EP - 6 JF - Journal of inherited metabolic disease JO - J Inherit Metab Dis VL - 28 IS - 6 N2 - 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. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/16435219/A_novel_deletion_in_a_Pearson_syndrome_infant_with_hypospadias_and_cleft_lip_and_palate_ DB - PRIME DP - Unbound Medicine ER -