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120:, published by its namesake, Raoul Hennekam. The molecular mechanism of the lymphedema phenotype in CCBE1-associated cases was identified as a diminished ability of the mutated CCBE1 to accelerate and focus the activation of the primary lymphangiogenic growth factor
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Hennekam, R. C. M.; Geerdink, R. A.; Hamel, B. C. J.; Hennekam, F. a. M.; Kraus, P.; Rammeloo, J. A.; Tillemans, A. a. W. (1989). "Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation".
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124:. Mutations in the FAT4 gene had previously been only associated with van Maldergem syndrome, but the pathogenetic molecular mechanism and the function of FAT4 within
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433:"CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3–Mediated Vascular Endothelial Growth Factor-C Activation"
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Alders M, Al-Gazali L, Cordeiro I, et al. (June 2014). "Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van
Maldergem syndrome".
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Hennekam
Syndrome is subdivided according to the causative genetic lesion, most (or all) of which are affecting the VEGF-C/VEGFR-3 signaling pathway:
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Van Balkom ID, Alders M, Allanson J, et al. (November 2002). "Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review".
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Brouillard, Pascal; Dupont, Laura; Helaers, Raphael; Coulie, Richard; Tiller, George E.; Peeden, Joseph; Colige, Alain; Vikkula, Miikka (2017).
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Alders M, Hogan BM, Gjini E, et al. (December 2009). "Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans".
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Erkan T, Kutlu T, Çullu F; et al. (1998). "Syndrome de hennekamHennekam syndrome" [Hennekam syndrome].
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ennekam lymphangiectasia–lymphedema syndrome, intestinal lymphagiectasia–lymphedema–mental retardation syndrome
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disorder consisting of intestinal lymphangiectasia, facial anomalies,
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Tadmouri GO (2005). "Hennekam lymphangiectasia–lymphedema syndrome".
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intestinal lymphagiectasia–lymphedema–mental retardation syndrome
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Hennekam syndrome is inherited in an autosomal recessive manner
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Jeltsch M, Jha SK, Tvorogov D, et al. (February 2014).
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The first recognition of a genetic association was with
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82:intellectual disability
108:Type 3 (mutations in
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132:References
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