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Quoted phrase not found in phrase index: "X-linked intellectual disability with marfanoid habitus"
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L. Callier P, et al. Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18. Clin Genet. 2013. PMID: 23506379 Free article.
The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic heterogeneity. ...The search for aortic complications is mandatory even if MH is associated with …
The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, …
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).
Van Buggenhout GJ, Trommelen JC, Brunner HG, Hamel BC, Fryns J. Van Buggenhout GJ, et al. Ann Genet. 2001 Jan-Mar;44(1):47-55. doi: 10.1016/s0003-3995(01)01038-3. Ann Genet. 2001. PMID: 11334618
In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 22 males (i.e. 5 % of the male population) had XLMR, accounting for 36.1 % of the residents diagnosed with a monogenic disorder (n = 61). Fragile X syndrome (FRAXA) was diagnos …
In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 22 males (i.e. 5 % of the male popul …
X-linked mental retardation with Marfanoid habitus: a changing phenotype with age?
Fryns JP, Van Den Berghe H. Fryns JP, et al. Genet Couns. 1991;2(4):241-4. Genet Couns. 1991. PMID: 1799424
In this report, we present two further examples of X-linked mental retardation with Marfanoid habitus. Follow-up data on these two patients reveal that the clinical diagnosis of this syndrome is extremely difficult, if not impossible before puberty, as …
In this report, we present two further examples of X-linked mental retardation with Marfanoid habitus. Follow-up …