A Filipino child with dyskeratosis congenita with a C→T substitution on nucleotide 1085 of the DKC1 gene / (Record no. 3011)

MARC details
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control field DOH
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control field 20210220143955.0
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Title A Filipino child with dyskeratosis congenita with a C→T substitution on nucleotide 1085 of the DKC1 gene /
Statement of responsibility, etc. Miraflor Bas-Bucao [and three others]
520 3# - SUMMARY, ETC.
Summary, etc. We present a 4 year old Filipino male child with leukoplakia, poor dentition, reticular hyperpigmentation, mild hyperkeratosis of both heels, nail dystrophy, and pallor/anemia. These features are consistent with Dyskeratosis Congenita (DKC) or Zinsser-Engman-Cole syndrome, a rare genodermatosis. He is the youngest in a sibship of three, born to non-consanguineous Filipino parents. The family pedigree is consistent with the X-linked recessive type of DKC. Our patient's bone marrow examination revealed erythroid hyperblasia, dysplastic changes in granulocyte and erythroid cells, and was negative for tumor cells. There was no undue proliferation of immature blast cells. Bone marrow failure in this syndrome is usually progressive but severity is known to vary. His skin biopsy results were consistent with DKC showing atrophic squamous epithelium, mild hyperkeratosis, melanophages, and telangiectatic vessels. Molecular studies revealed a C->T substitution on nucleotide 1058 of the DKC1 gene producing a commonly reported alanine to valine change at position 353 (A353V).
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Linking entry complexity note In: Acta Medica Philippina, 2009 vol 43 (1) pages: 39-42
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Topical term or geographic name entry element Dyskeratosis Congenita
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Personal name Bas-Bucao, Miraflor
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Personal name Cavan, Barbra Charina V.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Limchiu, Susana Deborah P.
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Personal name Metzenberg, Aida
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Koha item type Journal Article
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    National Library of Medicine     DOH Central Library DOH Central Library Electronic Resource Section 02/20/2021   J000095 D0001J000095 02/20/2021 02/20/2021 Journal Article