Luis F Escobar
Affiliation: St. Vincent Hospitals and Health Services
- Neonatal presentation of lethal neuromuscular glycogen storage disease type IVL F Escobar
Medical Genetics and Neurodevelopmental Pediatric Center Peyton Manning Children Hospital, Indianapolis, IN 46260, USA
J Perinatol 32:810-3. 2012..We review recent information on early presentation of GSD IV with particular interest in the presentation of the neonatal lethal neuromuscular form of this rare disorder...
- Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplicationBlake C Ballif
Signature Genomic Laboratories, LLC, Spokane, WA, USA
Mol Cytogenet 1:8. 2008..6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication is anticipated to occur with equal frequency, although only one family with this duplication has been reported...
- Urorectal septum malformation sequence: prenatal progression, clinical report, and embryology reviewLuis F Escobar
Medical Genetics and Neurodevelopment Center, St Vincent Children s Hospital, St Vincent Health Services of Indianapolis, IN 46260, USA
Am J Med Genet A 143:2722-6. 2007..Postnatal evaluation confirmed a URSMS diagnosis; the newborn had ambiguous genitalia, hypoplastic kidneys, absent uterus, imperforate anus, smooth perineum, and overall underdeveloped urogenital structures...
- Significant phenotypic variability of Muenke syndrome in identical twinsLuis F Escobar
Medical Genetics and Neurodevelopmental Center, St Vincent Children s Hospital, Indianapolis, Indiana, USA
Am J Med Genet A 149:1273-6. 2009..These patients illustrate the variable expressivity of MS in association with an identical gene mutation...