Prenatal Diagnosis, EarlyView.ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear +6 more
wiley +1 more source
A novel missense mutation c.1381T>C: p.(S461P) in <i>POLE</i> causes multiple molecular features of endometrial carcinoma in China: a case report. [PDF]
Front OncolLi Y, Wang L, Han L, Zheng Z, Yan J.
europepmc +1 more source
Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective We describe a series of pregnancies with autosomal dominant lymphedema and generalized lymphatic dysplasia in the fetus diagnosed with prenatal exome or genome sequencing. We focus on specific syndromes, fetal features, and parental symptoms to deepen our understanding of congenital lymphatic anomalies.
Sara G. Vargo +4 more
wiley +1 more source
A novel homozygous missense mutation in WNT10B in familial split‐hand/foot malformation
Clinical Genetics, 2012 Saadullah Khan +6 more
semanticscholar +1 more source
Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report. [PDF]
Front Med (Lausanne)Zhang J, Guo M, Yuan D, Wei J, Cui H.
europepmc +1 more source
CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
Pediatric Investigation, EarlyView.Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo +18 more
wiley +1 more source
A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy. [PDF]
J Med LifeCapisizu A +3 more
europepmc +1 more source
Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery +43 more
wiley +1 more source
A novel missense-mutation-related feature extraction scheme for 'driver' mutation identification
Bioinform., 2012 Hua Tan, Jiguang Bao, Xiaobo Zhou
semanticscholar +1 more source