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Titolo:
PATERNALLY INHERITED DELETION OF CSH1 IN A PATIENT WITH SILVER-RUSSELL-SYNDROME
Autore:
EGGERMANN T; EGGERMANN K; MERGENTHALER S; KUNER R; KAISER P; RANKE MB; WOLLMANN HA;
Indirizzi:
UNIV TUBINGEN,DIV CLIN GENET,INST ANTHROPOL & HUMAN GENET,WILHELMSTR 27 D-72074 TUBINGEN GERMANY UNIV TUBINGEN,CHILDRENS HOSP,GROWTH RES CTR TUBINGEN GERMANY
Titolo Testata:
Journal of Medical Genetics
fascicolo: 9, volume: 35, anno: 1998,
pagine: 784 - 786
SICI:
0022-2593(1998)35:9<784:PIDOCI>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN CHORIONIC SOMATOMAMMOTROPIN; HUMAN GROWTH-HORMONE; UNIPARENTAL DISOMY-7; PLACENTAL-LACTOGEN; GENE DELETION; PREGNANCY; TRANSLOCATION; ABSENCE; DNA;
Keywords:
SILVER-RUSSELL SYNDROME; CHORIONIC SOMATOMAMMOTROPHIN HORMONE 1 (CSH1); GROWTH HORMONE GENE CLUSTER;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
23
Recensione:
Indirizzi per estratti:
Citazione:
T. Eggermann et al., "PATERNALLY INHERITED DELETION OF CSH1 IN A PATIENT WITH SILVER-RUSSELL-SYNDROME", Journal of Medical Genetics, 35(9), 1998, pp. 784-786

Abstract

In a continuing study on the aetiology of Silver-Russell syndrome (SRS), we detected a patient with a heterozygous deletion in the growth hormone gene cluster (17q22-q24). The deletion of the chorionic somatomammotrophin hormone 1 (CSH1) gene was inherited from the patient's father. The patient shows typical symptoms of SRS. Though deletions of CSH1 have been reported without any phenotypic consequences, the heterozygous deletion might be involved in the aetiology of SRS in The case presented here. Apart from other observations in SRS, like maternal uniparental disomy 7, changes in the genomic region 17q22-qter might be responsible for the expression of this syndrome for at least some of the patients, leading to the heterogeneity of SRS.

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Documento generato il 01/12/20 alle ore 16:43:12