Article

A Novel Missense Mutation in NALCN cause CLIFAHDD Syndrome and Prenatal Diagnosis in China

2020-12-16

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>: CLIFAHDD is caused by mutation in NALCN and characterized by facial malformation, hypotonia, and developmental delay. Recently rare mutations in NALCN associated with of CLIFAHDD syndrome have been reported. <bold>Methods </bold>: Whole exome sequencing (WES) was applied to a diagnosis suspected CLIFAHDD syndrome proband based on clinical symptoms. Blood sample...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5301e451-76d4-5322-a8b6-a74cadea4410
DOI: 10.21203/rs.3.rs-127028/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Novel Missense Mutation in NALCN cause CLIFAHDD Syndrome and Prenatal Diagnosis in ChinaDOI 10.21203/rs.3.rs-127028/v1Read

A Novel Missense Mutation in NALCN Cause CLIFAHDD Syndrome and Prenatal Diagnosis in ChinaSemantic proximity Read

Prenatal diagnosis identifies compound heterozygous variants in PKDCC that causes Rhizomelic Limb Shortening with Dysmorphic Features in a Chinese fetusSemantic proximity Read

A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly.Semantic proximity Read

Prenatal diagnosis of cleft lip and palate: a study of clinical utilitySemantic proximity Read

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.Semantic proximity Read

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental DelaySemantic proximity Read

The clinical utility of genetic technologies in prenatally diagnosed cleft lip and or palate – a cohort studySemantic proximity Read

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.Semantic proximity Read

Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China.Semantic proximity Read

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).Semantic proximity Read

Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.Semantic proximity Read

The first prenatal diagnosis of EMC10-Related neurodevelopmental disorder: Expanding the phenotypic and mutational spectra through a case and literature review.Semantic proximity Read