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Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant.
Braz, S V; Benicio, R A; Tonelli, G S S S; Báo, S N; Moretti, P N; Pic-Taylor, A; Oliveira, S F; Acevedo, A C; Costa, I M C; Mazzeu, J F.
Afiliación
  • Braz SV; Postgraduate Programme in Health Sciences, University of Brasília, Brasília, Brazil.
  • Benicio RA; Hospital da Criança de Brasília-José de Alencar, Brasília, Brazil.
  • Tonelli GSSS; Postgraduate Programme in Medical Sciences, University of Brasília, Brasília, Brazil.
  • Báo SN; Departments of Cellular Biology, Institute of Biological Sciences, University of Brasília, Brasília, Brazil.
  • Moretti PN; Departments of Cellular Biology, Institute of Biological Sciences, University of Brasília, Brasília, Brazil.
  • Pic-Taylor A; Postgraduate Programme in Medical Sciences, University of Brasília, Brasília, Brazil.
  • Oliveira SF; Postgraduate Programme in Health Sciences, University of Brasília, Brasília, Brazil.
  • Acevedo AC; Postgraduate Programme in Medical Sciences, University of Brasília, Brasília, Brazil.
  • Costa IMC; Department of Genetics and Morphology, Institute of Biological Sciences, University of Brasília, Brasília, Brazil.
  • Mazzeu JF; Postgraduate Programme in Health Sciences, University of Brasília, Brasília, Brazil.
Clin Exp Dermatol ; 47(4): 812-815, 2022 Apr.
Article en En | MEDLINE | ID: mdl-34958133
ABSTRACT
Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous LMBRD1 variant. Genetic disorders of cobalamin metabolism caused by variants in the ABCD4 or LMBRD1 genes should be considered in patients presenting with cutaneous hyperpigmentation. Click https//www.wileyhealthlearning.com/#/online-courses/a6ef1275-8325-4834-89d2-aa18fa31e63f for the corresponding questions to this CME article.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Deficiencia de Vitamina B 12 / Hiperpigmentación Límite: Female / Humans Idioma: En Revista: Clin Exp Dermatol Año: 2022 Tipo del documento: Article País de afiliación: Brasil
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Deficiencia de Vitamina B 12 / Hiperpigmentación Límite: Female / Humans Idioma: En Revista: Clin Exp Dermatol Año: 2022 Tipo del documento: Article País de afiliación: Brasil