American Journal of Medical Genetics · 1993 · 25 citations · 6 references
Life SciencesAnatomyGeneticsCraniofacial GeneticsEyelid DisordersHuman GeneticsCongenital Musculoskeletal DisordersCongenital Organ DefectsConnective Tissue DiseasesConnective Tissue DisordersGenetic DisordersConnective Tissue Disorder SyndromesHair ChangesSkeletal Abnormalities
GAPO syndrome in 2 sibs (brother and sister) and in a first cousin presented slight variations in the clinical picture. These include presence of some body hair, white eyelashes, deep furrows on sternum and back, disproportional body build, and minor skeletal abnormalities. It has been suggested that the athletic appearance of affected individuals is most likely due to the excessive amount of connective tissue.
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Anita Wajntal, Célia Priszkulnik Koiffmann, Berenice B. Mendonça et al. · American Journal of Medical Genetics · 1990 · 66 citations
Medicine, Ophthalmology, Pathology +15
Sylvie Manouvrier‐Hanu, C Largillière, M. Benalioua et al. · American Journal of Medical Genetics · 1987 · 29 citations
Medicine, Nephrology, Pediatrics +10