American Journal of Medical Genetics · 2000 · 15 citations · 8 references
Life SciencesGeneticsPediatricsHuman GeneticsMedical GeneticsCongenital DisordersDysplasiaGenetic DisordersMendelian DisordersSkeletal DysplasiasConsanguineous MarriageFamilial Syndromes
Mandibuloacral dysplasia is a rare condition. Only 11 families have been reported and five of them were Italian, while consanguinity was found only in one report. We describe an additional Italian patient born from consanguineous parents. Am. J. Med. Genet. 94:237–241, 2000. © 2000 Wiley-Liss, Inc.
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David L. Cutler, S. Kaufmann, Gary R. Freidenberg · The Journal of Clinical Endocrinology & Metabolism · 1991 · 34 citations
Familial mandibuloacral dysplasia
Alberto Maria Zina, A Cravario, Silvana Bundino · British Journal of Dermatology · 1981 · 29 citations
Medicine, Dermatology, Pathology +14
Hutchinson‐Gilford progeria: Familial occurrence
H Parkash, Sandeep Singh Sidhu, Rohit Raghavan et al. · American Journal of Medical Genetics · 1990 · 27 citations