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American Journal of Medical Genetics|November 15, 1993
Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasiaM T Greally, T Jewett, W L Smith, et al.Epilepsy & Behavior Reports|May 16, 2022
KBG syndrome mimicking genetic generalized epilepsyM J Murphy, N McSweeney, G L Cavalleri, et al.American Journal of Medical Genetics|September 19, 1997
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagenP H Byers, M Duvic, M Atkinson, et al.American Journal of Medical Genetics|March 21, 1998
Shprintzen-Goldberg syndrome: a clinical analysisM T Greally, J C Carey, D M Milewicz, et al.Journal of Medical Genetics|August 30, 2008
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsC Zweier, H Sticht, E K Bijlsma, et al.Pageof 1