Holly H Ardinger
Affiliation: Children's Mercy Hospital
- Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosisHolly H Ardinger
Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics, Kansas City, Missouri, USA
Am J Med Genet A 143:2959-62. 2007..Here, we report 2 new cases, review 13 previous cases, and propose that OES may be a mild variant of encephalocraniocutaneous lipomatosis (ECCL), differing primarily in its lack of intracranial pathology...
- Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnosticsCarol J Saunders
Department of Pathology and Laboratory Medicine, The Children s Mercy Hospitals and Clinics, Kansas City, Missouri 64108, USA
Am J Med Genet A 149:2527-31. 2009..In addition, we suggest an economical testing strategy...
- The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and reviewLinlea Armstrong
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
Am J Med Genet A 146:83-92. 2008..Herein, we present two cases, and, through review of the manifestations of HMS in affected and at-risk family members, we have observed that predisposition to brain tumor is a cardinal feature of this condition...
- Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromesShinji Kondo
Department of Pediatrics, The University of Iowa, Iowa City, Iowa 52242, USA
Nat Genet 32:285-9. 2002..Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia...
- Maternal serum screening and 22q11.2 deletion syndromeMichael L Begleiter
Am J Med Genet A 143:410-1. 2007