Výsledky vyhledávání - "Laura L. Thomson"

Pierre Robin sequence in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome: a case report and review of the literature

Autor: Sherard A. Tatum, Steven E Johnson, Laura L Thomson

Publikováno v: International Journal of Pediatric Otorhinolaryngology. 66:309-313

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare condition first identified in 1970. The majority of cases are reported to be autosomal dominant with variable expression and penetrance. The most common clinical feature is ectoderma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a25c119db05de35e402a91d4783d6b94
https://doi.org/10.1016/s0165-5876(02)00278-1

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Abstracts of Papers and Posters Presented at the Sixteenth Annual Education Conference of the National Society of Genetic Counselors (Baltimore, Maryland)

Autor: Laura L. Thomson

Publikováno v: Journal of Genetic Counseling. 6:433-512

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba16ca228f2767fb76c09c4a03022a1d
https://doi.org/10.1023/a:1025653027730

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Interstitial 6q deletion and Prader-Willi-like phenotype

Autor: Constance K. Stein, Joe J. Hoo, Susan E. Stred, Frank C. Smith, Laura L. Thomson

Publikováno v: Clinical genetics. 49(6)

A third case of an interstitial deletion of the long arm of chromosome 6 with clinical features mimicking Prader-Willi syndrome (PWS) is presented. Although preliminary clinical evaluation in each case suggested PWS, further review revealed that the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34843a5d702b0403a58d2e169efddccf
https://pubmed.ncbi.nlm.nih.gov/8884080

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Linear disruption of umbilical cord: A rare anomaly of the cord associated with acute fetal distress and perinatal death/profound psychomotor retardation

Autor: Laura L. Thomson, Joe J. Hoo

Publikováno v: American Journal of Medical Genetics. 62:348-349

We report on a non-malformed child with severe microcephaly and profound psychomotor delay. Review of the delivery/birth records documented descriptions consistent with linear disruption of the umbilical cord. This rare anomaly typically leads to acu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::83dfb17f56b729584b487bdbcb06b3dd
https://doi.org/10.1002/(sici)1096-8628(19960424)62:4<348::aid-ajmg5>3.0.co

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