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Pediatrics Physician in Houston, TX
NPI: 1407936842Primary Practice Location
TEXAS CHILDRENS HOSPITAL
6621 Fannin St, Houston, TX
Primary Employer
Texas Children's Physician Group - Wallace Tower
texaschildrens.org
HQ Phone
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PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Authors: Hsiao-Tuan Chao, Gloria Diaz-Medina, Elaine Seto
Publication Date: 2023-06
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.
Authors: Kristen Fisher, Lindsay Burrage, David Murdock, Carlos Bacino, Lisa Emrick, Paul Benke, Luis Rohena, Brendan Lee, Eva Morava-Kozicz, Kimberly Houck
Journal: Am J Med Genet A
Publication Date: 2023-09-25