Literature DB >> 7492166

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

S A Lynch1, D de Berker, A R Lehmann, R J Pollitt, M M Reid, W H Lamb.   

Abstract

A patient with sideroblastic anaemia, development delay, and trichothiodystrophy is presented. Trichothiodystrophy is a feature of several autosomal recessive diseases. Photosensitivity, failure to thrive, and developmental delay are commonly observed in affected cases. X linked inheritance accounts for the bulk of cases with sideroblastic anaemia. This case highlights the importance of routine hair microscopy in cases of atypical ectodermal dysplasia.

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Year:  1995        PMID： 7492166      PMCID： PMC1511270          DOI： 10.1136/adc.73.3.249

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

1.  Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.

Authors:  P D Cotter; M Baumann; D F Bishop
Journal:  Proc Natl Acad Sci U S A       Date:  1992-05-01       Impact factor: 11.205

2.  Friable hair, urea cycle dysfunction, and trichothiodystrophy. A new X-linked genodermatosis.

Authors:  M K Hordinsky; B Briden; S A Berry
Journal:  Curr Probl Dermatol       Date:  1987

3.  DNA repair. Engagement with transcription.

Authors:  D Bootsma; J H Hoeijmakers
Journal:  Nature       Date:  1993-05-13       Impact factor: 49.962

Review 4.  Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias.

Authors:  P H Itin; M R Pittelkow
Journal:  J Am Acad Dermatol       Date:  1990-05       Impact factor: 11.527

5.  A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.

Authors:  M Stefanini; W Vermeulen; G Weeda; S Giliani; T Nardo; M Mezzina; A Sarasin; J I Harper; C F Arlett; J H Hoeijmakers
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

6.  X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

Authors:  R J Gibbons; G K Suthers; A O Wilkie; V J Buckle; D R Higgs
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025
  6 in total
  2 in total

Review 1.  Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

Authors:  S Faghri; D Tamura; K H Kraemer; J J Digiovanna
Journal:  J Med Genet       Date:  2008-06-25       Impact factor: 6.318

2.  Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

Authors:  Khadim Shah; Raja Hussain Ali; Muhammad Ansar; Kwanghyuk Lee; Muhammad Salman Chishti; Izoduwa Abbe; Biao Li; Joshua D Smith; Deborah A Nickerson; Jay Shendure; Paul J Coucke; Wouter Steyaert; Michael J Bamshad; Regie Lyn P Santos-Cortez; Suzanne M Leal; Wasim Ahmad
Journal:  BMC Med Genet       Date:  2016-02-16       Impact factor: 2.103
  2 in total

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