Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum
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Y. Crow | R. Arthur | N. Gayatri | S. English
[1] H. Ozawa,et al. Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II , 2005, Brain and Development.
[2] T. Barrett,et al. Wolcott‐Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature , 2004, Acta paediatrica.
[3] A. Winterpacht,et al. A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. , 2004, American journal of human genetics.
[4] I. Temple,et al. A female case of Sedaghatian type spondylometaphyseal dysplasia , 2003, American Journal of Medical Genetics. Part A.
[5] D. Wieczorek,et al. Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. , 2003, Neuropediatrics.
[6] D. Sillence,et al. Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings. , 2000, Clinical dysmorphology.
[7] F. Moinuddin,et al. Spondylometaphyseal dysplasia: Sedaghatian type. , 2000, American journal of medical genetics.
[8] C. Hall,et al. Spondylometaphyseal dysplasia-Sedaghatian type. , 1998, American journal of medical genetics.
[9] J. Opitz,et al. Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies. , 1987, American journal of medical genetics.
[10] R. Campbell,et al. Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiological—pathological correlation , 2005, Pediatric Radiology.
[11] M. R. Sedaghatian. Congenital lethal metaphyseal chondrodysplasia: a newly recognized complex autosomal recessive disorder. , 1980, American journal of medical genetics.