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Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report.
Pecimonova M, Radvanszky J, Smolak D, Budis J, Lichvar M, Kristinova D, Rozova I, Turna J, Szemes T. Pecimonova M, et al. Medicine (Baltimore). 2021 Jun 4;100(22):e26136. doi: 10.1097/MD.0000000000026136. Medicine (Baltimore). 2021. PMID: 34087865 Free PMC article.
PATIENT CONCERNS: We report the case of a polystigmatized 2-year-old boy having significant symptomatologic overlap with PVNH7, such as delayed psychomotor and mental development, seizures and infantile spasms, periventricular nodular heterotopia, polymicrogyria, cleft palate, 2 …
PATIENT CONCERNS: We report the case of a polystigmatized 2-year-old boy having significant symptomatologic overlap with PVNH7, such as dela …
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
Ryan AK, Bartlett K, Clayton P, Eaton S, Mills L, Donnai D, Winter RM, Burn J. Ryan AK, et al. J Med Genet. 1998 Jul;35(7):558-65. doi: 10.1136/jmg.35.7.558. J Med Genet. 1998. PMID: 9678700 Free PMC article.
The typical facial appearance becomes less obvious with age and 20% of cases did not have 2/3 toe syndactyly. Biochemical measurements of serum 7-dehydrocholesterol did not correlate with clinical severity....
The typical facial appearance becomes less obvious with age and 20% of cases did not have 2/3 toe syndactyly. Biochemical meas …