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Titolo:
A NEW VARIANT OF TRICHOTHIODYSTROPHY WITH RECURRENT INFECTIONS, FAILURE-TO-THRIVE, AND DEATH
Autore:
PETRIN JH; MECKLER KA; SYBERT VP;
Indirizzi:
CHILDRENS HOSP & MED CTR,DIV DERMATOL,CH-25,4800 SAND POINT WAY NE SEATTLE WA 98105 UNIV WASHINGTON,SCH MED,DEPT MED,DIV DERMATOL SEATTLE WA 98195
Titolo Testata:
Pediatric dermatology
fascicolo: 1, volume: 15, anno: 1998,
pagine: 31 - 34
SICI:
0736-8046(1998)15:1<31:ANVOTW>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT BRITTLE HAIR; RETARDATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
11
Recensione:
Indirizzi per estratti:
Citazione:
J.H. Petrin et al., "A NEW VARIANT OF TRICHOTHIODYSTROPHY WITH RECURRENT INFECTIONS, FAILURE-TO-THRIVE, AND DEATH", Pediatric dermatology, 15(1), 1998, pp. 31-34

Abstract

Two brothers demonstrated a severe variant of trichothiodystrophy. Both had brittle hair, developmental delay with severe failure to thrive, recurrent infections, cataracts, and angioendotheliomas of the liverat autopsy. The elder died at 12 weeks, the younger at 6 months. The younger had the typical appearance of banded hair on polarizing microscopy and a low cystine content measured by ion exchange chromatography. The history, clinical findings, and basic defects of trichothiodystrophy are discussed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 12:47:25