Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Autor: Alders, M, Mendola, A, Ades, L, Al Gazali, L, Bellini, C, Dallapiccola, B, Edery, P, Frank, U, Hornshuh, F, Huisman, Sander, Jagadeesh, S, Kayserili, H, Keng, WT, Lev, D, Prada, CE, Sampson, JR, Schmidtke, J, Shashi, V, Bever, Yolande, Van der Aa, N, Verhagen, Judith, Verheij, JBGM, Vikkula, M, Hennekam, RCM

Publikováno v: Molecular syndromology, 4(3), 107-113. S. Karger AG
Molecular Syndromology, 107-113. Karger
STARTPAGE=107;ENDPAGE=113;ISSN=1661-8769;TITLE=Molecular Syndromology

The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d4b71f6c5a2d50af8e560dfc78b92002
https://europepmc.org/articles/PMC3638933/

Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review

Autor: Wessels, Marja, Hollander, NS, de Krijger, Ronald, Nikkels, PGJ (Peter), Brandenburg, H, Hennekam, RCM, Willems, PJ

Publikováno v: American Journal of Medical Genetics, 120A, 97-104. Wiley-Liss Inc.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::c61c8bd02b6500a8d12d6bdb202f3101
https://pure.eur.nl/en/publications/386ae45b-86bf-41ed-aebd-b3c2b4d1b1d3

Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive urioste syndrome

Autor: Haelst, Mieke, Hoogeboom, AJM, Galjaard, H, Kleijer, W, Hollander, NS, de Krijger, Ronald, Hennekam, RCM, Niermeijer, Martinus

Publikováno v: American Journal of Medical Genetics, 104, 65-68. Wiley-Liss Inc.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::ff7aef3833817645c8ac97f7d80fe44a
https://pure.eur.nl/en/publications/3f05b8f7-de05-4435-b216-e66c1554a899

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