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Titolo:
INHERITED MACROCEPHALY-HAMARTOMA SYNDROMES
Autore:
DILIBERTI JH;
Indirizzi:
UNIV ILLINOIS,COLL MED PEORIA,CHILDRENS HOSP ILLINOIS,DEPT PEDIAT,ST FRANCIS MED CTR PEORIA IL 61637 ST FRANCIS MED CTR PEORIA IL 00000
Titolo Testata:
American journal of medical genetics
fascicolo: 4, volume: 79, anno: 1998,
pagine: 284 - 290
SICI:
0148-7299(1998)79:4<284:IMS>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
LHERMITTE-DUCLOS DISEASE; RILEY-RUVALCABA-SYNDROME; MYHRE-SMITH SYNDROME; BANNAYAN-ZONANA SYNDROME; COWDEN-DISEASE; HEAD CIRCUMFERENCE; GERMLINE MUTATIONS; CUTIS MARMORATA; GENE; PTEN;
Keywords:
MACROCEPHALY; AUTOSOMAL DOMINANT; PTEN; HAMARTOMA; MATCHS; RUVALCABA-MYHRE-SMITH SYNDROME; BANNAYAN-RILEY-RUVALCABA SYNDROME; LHERMITTE-DUCLOS SYNDROME; COWDEN DISEASE; CARNITINE LIPID MYOPATHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
51
Recensione:
Indirizzi per estratti:
Citazione:
J.H. Diliberti, "INHERITED MACROCEPHALY-HAMARTOMA SYNDROMES", American journal of medical genetics, 79(4), 1998, pp. 284-290

Abstract

Recent discoveries in the molecular biology of the phosphatase and tensin homolog (PTEN) locus in the q22-23 region of chromosome 10 prove and/or suggest that several syndromes previously considered to be clinically and genetically distinct entities should actually be unified into a single entity. This conclusion is most secure for the Cowden and ''Bannayan-Zonana'' phenotypes, but almost certainly should also include the ''Riley-Ruvalcaba'' and Lhermitte-Duclos phenotypes as well benign familial macrocephaly and external hydrocephalus. The clinical andmolecular data supporting this unification are presented along with aproposal for new nomenclature-the PTEN MATCHS (macrocephaly, autosomal dominant, thyroid disease, cancer, hamartomata, skin abnormalities) syndrome-based on the observed clinical abnormalities, (C) 1998 Wiley-Liss, Inc.

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Documento generato il 30/10/20 alle ore 07:12:21