Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing

(2016) Yong Shi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

(2016) Katta Mohan Girisha et al.   BMC Medical Genetics

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

Somatic mosaicism: implications for disease and transmission genetics

(2015) Ian M. Campbell et al.   TRENDS IN GENETICS

Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism

(2014) A.Y. Tan et al.   CLINICAL GENETICS

Somatic Mutations in Cerebral Cortical Malformations

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

(2011) Philip B. Daniel et al.   HUMAN MUTATION

Case Report

(2008) Matthew B. Dobbs et al.   CLINICAL ORTHOPAEDICS AND RELATED RESEARCH

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

(2008) N. Winer et al.   PRENATAL DIAGNOSIS