Smith-Magenis Syndrome: Face Speaks
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M. Kabra | S. Phadke | K. Mandal | S. Nampoothiri | N. Gupta | P. Sharma | Rekha Gupta | Y. Kishore
[1] J. Lupski,et al. Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases , 2007, Clinical genetics.
[2] T. Hart,et al. Craniofacial and dental phenotype of Smith–Magenis syndrome , 2006, American journal of medical genetics. Part A.
[3] S. Girirajan,et al. Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum , 2006, Genetics in Medicine.
[4] A. Gropman,et al. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). , 2006, Pediatric neurology.
[5] E. W. Simon,et al. Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome. , 2001, American journal of mental retardation : AJMR.
[6] J. Allanson,et al. The face of Smith-Magenis syndrome: a subjective and objective study , 1999, Journal of medical genetics.
[7] E. Dykens,et al. Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome. , 1998, Journal of intellectual disability research : JIDR.
[8] L. Vallée,et al. Smith-Magenis syndrome , 2019, Definitions.
[9] A. C. Chinault,et al. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome , 1997, Nature Genetics.
[10] J. Lupski,et al. Ophthalmic manifestations of Smith-Magenis syndrome. , 1996, Ophthalmology.
[11] C McCluggage,et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) , 1996, American journal of medical genetics.
[12] B. Trask,et al. Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. , 1995, American journal of medical genetics.
[13] J. Lupski,et al. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). , 1991, American journal of human genetics.