2021
A 6-year-old Refugee Girl with Profound Developmental Disability and Seizures
Rosenberg JM, Brown C, Spencer-Manzon MJ. A 6-year-old Refugee Girl with Profound Developmental Disability and Seizures. Pediatrics In Review 2021, 42: s23-s26. PMID: 33386354, DOI: 10.1542/pir.2019-0010.Peer-Reviewed Original Research
2018
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases
Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. European Journal Of Medical Genetics 2018, 62: 103551. PMID: 30300710, DOI: 10.1016/j.ejmg.2018.10.003.Peer-Reviewed Original ResearchMeSH KeywordsAutoantigensChild, PreschoolCodon, NonsenseCraniofacial AbnormalitiesDevelopmental DisabilitiesFemaleGenes, RecessiveHumansInfantMalePhenotypeSiblingsSyndromeConceptsKLHL7 mutationsCrisponi syndromeSyndrome type 1Novel nonsense variantBohring-Opitz syndromeNovel multisystem diseaseNovel homozygous nonsense mutationMultiple dysmorphic featuresClinical featuresClinical findingsMultisystem diseaseLike presentationHomozygous nonsense mutationType 1Dysmorphic featuresDevelopmental delaySyndromeFurther delineationNonsense variantClinical traitsPatientsMember 7DiseaseDisease-associated variantsSiblings