A further family of Stromme syndrome carrying CENPF mutation.

Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3-month-old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features.

Association of vitamin D receptor polymorphisms and type 1 diabetes susceptibility in children: a meta-analysis.

Background: There have been studies focused on , I, I and I polymorphisms of the vitamin D receptor (VDR) gene and susceptibility to type 1 diabetes mellitus with controversial results.

Methods: This present study is a meta-analysis investigating the association between FokI, ApaI, TaqI and BsmI polymorphisms of VDR gene and type 1 DM in children. A literature search was performed using Medline, EMBASE, Cochrane and PubMed.

Molecular Genetic Analysis of Survival Motor Neuron Gene in 460 Turkish Cases with Suspicious Spinal Muscular Atrophy Disease.

Objective: To describe 12 yr experience of molecular genetic diagnosis of Spinal Muscular Atrophy (SMA) in 460 cases of Turkish patients.

Materials & Methods: A retrospective analysis was performed on data from 460 cases, referred to Medical Genetics Laboratory, Ege University's Hospital, Izmir, Turkey, prediagnosed as SMA or with family history of SMA between 2003 and 2014. The PCR-restriction fragment length polymorphism (RFLP) and the Multiplex ligation-dependent probe amplification (MLPA) analysis were performed to detect the survival motor neuron (SMN)1 deletions and to estimate SMN1 and SMN2 gene copy numbers.

The association of residential mold exposure and adenotonsillar hypertrophy in children living in damp environments.

Background: There are many consequences of mold exposure related to respiratory system health of children This retrospective cohort study aims to find the association between adenoid hypertrophy and mold exposure in children living in damp environments.

Methods: Children with history of recurrent respiratory tract infections were enrolled in the study between June 2012 and June 2013 and were followed up for adenoid hypertrophy from June 2013 to June 2016. One hundred and forty two children were residents of moldy houses and 242 were living in normal houses.