Phenotypic variation in LADD syndrome.
Identifieur interne : 007E75 ( Ncbi/Checkpoint ); précédent : 007E74; suivant : 007E76Phenotypic variation in LADD syndrome.
Auteurs : E. Thompson ; M. Pembrey ; J M GrahamSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1985.
Abstract
A mother and son are reported with chronic dacrocystitis, cup shaped ears, hearing loss, abnormal teeth, and poor formation of saliva and tears. They are similar to previously reported cases of lacrimo-auriculo-dento-digital (LADD) syndrome. The variability of expression of this autosomal dominant syndrome is discussed, and it is suggested that poor saliva and tear formation be added to the phenotype.
Url:
PubMed: 4078868
PubMed Central: 1049483
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 001590
- to stream Pmc, to step Curation: 001590
- to stream Pmc, to step Checkpoint: 002957
- to stream Ncbi, to step Merge: 007E75
- to stream Ncbi, to step Curation: 007E75
Links to Exploration step
PMC:1049483Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotypic variation in LADD syndrome.</title><author><name sortKey="Thompson, E" sort="Thompson, E" uniqKey="Thompson E" first="E" last="Thompson">E. Thompson</name></author><author><name sortKey="Pembrey, M" sort="Pembrey, M" uniqKey="Pembrey M" first="M" last="Pembrey">M. Pembrey</name></author><author><name sortKey="Graham, J M" sort="Graham, J M" uniqKey="Graham J" first="J M" last="Graham">J M Graham</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">4078868</idno><idno type="pmc">1049483</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049483</idno><idno type="RBID">PMC:1049483</idno><date when="1985">1985</date><idno type="wicri:Area/Pmc/Corpus">001590</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001590</idno><idno type="wicri:Area/Pmc/Curation">001590</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001590</idno><idno type="wicri:Area/Pmc/Checkpoint">002957</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002957</idno><idno type="wicri:Area/Ncbi/Merge">007E75</idno><idno type="wicri:Area/Ncbi/Curation">007E75</idno><idno type="wicri:Area/Ncbi/Checkpoint">007E75</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Phenotypic variation in LADD syndrome.</title><author><name sortKey="Thompson, E" sort="Thompson, E" uniqKey="Thompson E" first="E" last="Thompson">E. Thompson</name></author><author><name sortKey="Pembrey, M" sort="Pembrey, M" uniqKey="Pembrey M" first="M" last="Pembrey">M. Pembrey</name></author><author><name sortKey="Graham, J M" sort="Graham, J M" uniqKey="Graham J" first="J M" last="Graham">J M Graham</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="1985">1985</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>A mother and son are reported with chronic dacrocystitis, cup shaped ears, hearing loss, abnormal teeth, and poor formation of saliva and tears. They are similar to previously reported cases of lacrimo-auriculo-dento-digital (LADD) syndrome. The variability of expression of this autosomal dominant syndrome is discussed, and it is suggested that poor saliva and tear formation be added to the phenotype.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00097-0055-a" xlink:role="383"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00097-0056-a" xlink:role="384"></graphic></fig></sec></div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Graham, J M" sort="Graham, J M" uniqKey="Graham J" first="J M" last="Graham">J M Graham</name><name sortKey="Pembrey, M" sort="Pembrey, M" uniqKey="Pembrey M" first="M" last="Pembrey">M. Pembrey</name><name sortKey="Thompson, E" sort="Thompson, E" uniqKey="Thompson E" first="E" last="Thompson">E. Thompson</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/EdenteV2/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007E75 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 007E75 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= EdenteV2
|flux= Ncbi
|étape= Checkpoint
|type= RBID
|clé= PMC:1049483
|texte= Phenotypic variation in LADD syndrome.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:4078868" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a EdenteV2
| This area was generated with Dilib version V0.6.32. |  |