2020
DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants
Amabile S, Jeffries L, McGrath JM, Ji W, Spencer‐Manzon M, Zhang H, Lakhani SA. DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. American Journal Of Medical Genetics Part A 2020, 182: 2049-2057. PMID: 32656949, DOI: 10.1002/ajmg.a.61729.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentCharcot-Marie-Tooth DiseaseChildChild, PreschoolCytoplasmic DyneinsFemaleGenetic Predisposition to DiseaseHeterozygoteHumansInfantMaleMalformations of Cortical DevelopmentMuscular Atrophy, SpinalMutation, MissensePhenotypeConceptsSpinal muscular atrophyIntellectual disabilityUnrelated patientsSingle-center experienceNew unrelated patientsCenter experienceDYNC1H1 geneCNS disordersCombined disordersCortical developmentDisease-causing variantsVariable syndromeNeuromuscular diseaseNeuromuscular phenotypePatientsMuscular atrophyHeterozygous variantsDYNC1H1Medical literatureCharcot-MarieDisordersType 20Novel variantsPhenotypeReport
2011
Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
Puri PK, Reddi DM, Spencer-Manzon M, Deak K, Steele SU, Mikati MA. Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency. JAMA Dermatology 2011, 148: 73-78. PMID: 21931015, DOI: 10.1001/archdermatol.2011.281.Peer-Reviewed Original ResearchMeSH KeywordsChild, PreschoolHairHumansIchthyosis, X-LinkedMaleMalformations of Cortical DevelopmentMicroscopy, PolarizationConceptsSteroid sulfatase deficiencyUnilateral polymicrogyriaSulfatase deficiencyRetinitis pigmentosaGeneralized tonic seizuresLeft lateral ventricleMicroscopic examinationLight microscopic examinationSjögren-Larsson syndromeHemispheric polymicrogyriaNeurologic manifestationsPoor dentitionTonic seizuresPhysical examinationForms of ichthyosisLateral ventricleCaucasian maleCortical developmentRefsum diseaseHair findingsAbnormal hairPolymicrogyriaAsymmetric dilationPatientsSeizures