how to cite this article: akbarizar e, ebrahimpour m, akbari s, arzhanghi s, abedini ss, najmabadi h, kahrizi k. a novel deletion mutation in aspm gene in an iranian family with autosomal recessive primary microcephaly. iran j child neurol.  2013 spring;7(2):23-30.   objective autosomal recessive primary microcephaly (mcph) is a neurodevelopmental and genetically heterogeneous disorder with dec...

hearing loss (hl) is the most frequent sensory defect present in 1 of every 500 newborns. in developed countries, at least 50% of cases are caused genetic factors, most often resulting in nonsyndromic hl (70%), which is usually autosomal recessive (80%). to date, fifty genes associated with autosomal recessive non-syndromic hearing loss (arnshl) have been reported.  the aim of this study was to...

background: phenylketonuria (pku) is an autosomal recessive disease of phenylalanine metabolism that brings deficiency of the enzyme phenylalanine hydroxylase (pah). early diagnosis is very important to prevent complications. this study was designed to describe characteristics of patients with phenylketonuria in mazandaran province in northern iran. methods: we studied 24 cases suffering from p...

Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism resulting from deficiency hydroxylase (PAH).

The use of the three genetic models viz. additive, dominant and recessive in Genome-wide association study (GWAS) is a common powerful approach to between variants trait (disease). selection these depends on pattern inheritance scope study. GWAS typically focuses single-nucleotide polymorphism (SNPs) human diseases case-control setup. In order this type risk genotype phenotype for given pattern...

PAGE INTRODUCTION. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .................... 44 Red ( r ) , a recessive eye col . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 44 Orange (o), a recessive eye . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 45 Triang...

Geometry of eccentrically braced frames (EBFs) in some cases causes the connection of link beam to the column. The details of such conditions should be studied carefully due to the full plastic rotation in the link beam. In this research, the behavior of link-to-column connection is modeled and the failure modes are considered. Based on the previous researches shear link can exhibit better beha...