BernheimV1, Main, Exploration, bibRecord, 000935

Gonadal dysgenesis in del(18p) syndrome

Identifieur interne : 000935 ( Main/Exploration ); précédent : 000934; suivant : 000936

Gonadal dysgenesis in del(18p) syndrome

Auteurs : Louise Telvi [France] ; Alain Bernheim [France] ; Alexandra Ion ; Françoise Fouquet ; Yves Le Bouc [France] ; Jean-Louis Chaussain

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1995-07-17.

RBID : ISTEX:3AC5879288E74E9202349AAF0529F1ACA4320C19

English descriptors

Teeft :
- Abnormality, Chromosome, Deletion, Dutrillaux, Dysgenesis, Genet, Genetic factors, Gonadal, Gonadal dysgenesis, Grouchy, Hybridization, Laboratoire, Rtbg, Rtbg techniques, Schinzel, Streak gonads, Syndrome, Turleau.

Abstract

We report on a girl with syndromal gonadal dysgenesis and a de novo del(18p). Genetic factors controlling gonadal development are located not only on the X chromosome, but also on autosomes. The present case suggests that one of these genes is situated on 18p. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis. © 1995 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/3AC5879288E74E9202349AAF0529F1ACA4320C19/fulltext/pdf

DOI: 10.1002/ajmg.1320570416

Affiliations:

Links toward previous steps (curation, corpus...)

to stream Istex, to step Corpus: 000426
to stream Istex, to step Curation: 000425
to stream Istex, to step Checkpoint: 000636
to stream Main, to step Merge: 000944
to stream Main, to step Curation: 000935

Le document en format XML

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<front><div type="abstract" xml:lang="en">We report on a girl with syndromal gonadal dysgenesis and a de novo del(18p). Genetic factors controlling gonadal development are located not only on the X chromosome, but also on autosomes. The present case suggests that one of these genes is situated on 18p. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis. © 1995 Wiley‐Liss, Inc.</div>
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	Serveur d'exploration Hippolyte Bernheim
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration Hippolyte Bernheim

Gonadal dysgenesis in del(18p) syndrome

Gonadal dysgenesis in del(18p) syndrome

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri