Literature DB >> 308349

Infant with abnormal pigmentation, malformations, and immune deficiency.

L Ment, J Alper, R L Sirota, L B Holmes.   

Abstract

An infant had swirling hyperpigmentation, streaks of hypopigmentation, abnormal T-cell function, cleft palate, patent ductus arteriosus, and arrhinencephaly. This pattern of abnormalities is distinct from other disorders with abnormal pigmentation and malformations; such as incontinentia pigmenti, incontinentia pigmenti achromians, and the epidermal nevus syndrome.

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Year:  1978        PMID: 308349

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN: 0003-987X


  2 in total

1.  Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).

Authors:  S Aradhya; G Courtois; A Rajkovic; R A Lewis; M Levy; A Israël; D L Nelson
Journal:  Am J Hum Genet       Date:  2001-02-08       Impact factor: 11.025

2.  Symptomatic zinc deficiency in experimental zinc deprivation.

Authors:  C M Taylor; H F Goode; P J Aggett; I Bremner; B E Walker; J Kelleher
Journal:  J Clin Pathol       Date:  1992-01       Impact factor: 3.411

  2 in total

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