Spina bifida (SB) is the second most common nonlethal congenital malformation. The
existence of monogenic SB mouse models and human monogenic syndromes with SB …

Purpose Next-generation sequencing has implicated some risk variants for human spina
bifida (SB), but the genome-wide contribution of structural variation to this complex genetic …

Spina bifida (SB) is a debilitating birth defect caused by multiple gene and environment
interactions. Though SB shows non-Mendelian inheritance, genetic factors contribute to an …

Structural birth defects are a leading cause of mortality and morbidity in children world‐wide,
affecting as much as 6% of all live births. Among these conditions, neural tube defects …

Purpose Neural tube defects are a group of birth defects caused by failure of neural tube
closure during development. The etiology of NTD, requiring a complex interaction between …

Spina bifida refers to a collection of neural tube defects, including myelomeningocele,
meningocele, and myelocele (SBM), as well as lipomyelomeningocele and lipomeningocele …

Objective: To identify the genetic markers of spina bifida through a systematic survey of the
exome in an Indian cohort. Materials and Methods: Three consecutive patients (P1: 1 year …

Background Human studies of genetic risk factors for neural tube defects, severe birth
defects associated with long‐term health consequences in surviving children, have …

Despite compelling epidemiological evidence that folic acid supplements reduce the
frequency of neural tube defects (NTDs) in newborns, common variant association studies …

The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000
births with almost equal frequencies between two major categories: anencephaly and spina …