<?xml version="1.0" encoding="utf-8"?>
			<journal>
			<title>Journal of Pediatric Perspectives</title>
			<title_fa></title_fa>
			<short_title>JPP; J Ped Perspect</short_title>
			<subject>Medical Sciences</subject>
			<web_url>https://jpp.mums.ac.ir/</web_url>
			<journal_hbi_system_id>0</journal_hbi_system_id>
			<journal_hbi_system_user></journal_hbi_system_user>
			<journal_id_issn></journal_id_issn>
			<journal_id_issn_online>3060-7205</journal_id_issn_online>
			<journal_id_pii></journal_id_pii>
			<journal_id_doi></journal_id_doi>
			<journal_id_iranmedex></journal_id_iranmedex>
			<journal_id_magiran></journal_id_magiran>
			<journal_id_sid></journal_id_sid>
			<journal_id_nlai></journal_id_nlai>
			<journal_id_science></journal_id_science>
			<language>en</language>
			<pubdate>
				<type>jalali</type>
				<year>0</year>
				<month>0</month>
				<day>1</day>
			</pubdate>
			<pubdate>
				<type>gregorian</type>
				<year>2018</year>
				<month>1</month>
				<day>1</day>
			</pubdate>
			<volume>6</volume>
			<number>1</number>
			<publish_type>online</publish_type>
			<publish_edition>1</publish_edition>
			<article_type>fulltext</article_type>
			<articleset><article>
				<language>en</language>
				<article_id_issn></article_id_issn>
				<article_id_issn_online></article_id_issn_online>
				<article_id_pubmed></article_id_pubmed>
				<article_id_pii></article_id_pii>
				<article_id_doi></article_id_doi>
				<article_id_iranmedex></article_id_iranmedex>
				<article_id_magiran></article_id_magiran>
				<article_id_sid></article_id_sid>
				<title_fa></title_fa>
				<title>A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy</title>
				<subject_fa></subject_fa>
				<subject></subject>
				<content_type_fa></content_type_fa>
				<content_type>case report</content_type>
				<abstract_fa><![CDATA[]]></abstract_fa>
				<abstract><![CDATA[BackgroundsHypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. ResultsIn the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 gene (NM_001793:exon8:c.830delG) which leads to a frame-shift mutation (p.G277Afs*20). No intra-familial phenotypic variation was found. ConclusionIdentification of disease-causing mutation in this family facilitated the effective genetic counseling and prenatal diagnosis.]]></abstract>
				<keyword_fa></keyword_fa>
				<keyword>Cadherin-3, Gene, Mutation</keyword>
				<start_page>6999</start_page>
				<end_page>7002</end_page>
				<web_url>https://jpp.mums.ac.ir/article_9686.html</web_url>
			<author_list><author>
				<first_name>Soudeh</first_name>
				<middle_name></middle_name>
				<last_name>Ghafouri-Fard</last_name>
				<suffix></suffix>
				<first_name_fa></first_name_fa>
				<middle_name_fa></middle_name_fa>
				<last_name_fa></last_name_fa>
				<suffix_fa></suffix_fa>
				<email>s.ghafourifard@sbmu.ac.ir</email>
				<code>40160</code>
				<coreauthor>No</coreauthor>
				<affiliation>Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.</affiliation>
				<affiliation_fa></affiliation_fa>
				 </author><author>
				<first_name>Majid</first_name>
				<middle_name></middle_name>
				<last_name>Fardaei</last_name>
				<suffix></suffix>
				<first_name_fa></first_name_fa>
				<middle_name_fa></middle_name_fa>
				<last_name_fa></last_name_fa>
				<suffix_fa></suffix_fa>
				<email>mfardaei@sums.ac.ir</email>
				<code>40161</code>
				<coreauthor>No</coreauthor>
				<affiliation>Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.</affiliation>
				<affiliation_fa></affiliation_fa>
				 </author><author>
				<first_name>Seyed Mohammad Bagher</first_name>
				<middle_name></middle_name>
				<last_name>Tabei</last_name>
				<suffix></suffix>
				<first_name_fa></first_name_fa>
				<middle_name_fa></middle_name_fa>
				<last_name_fa></last_name_fa>
				<suffix_fa></suffix_fa>
				<email>tabeismb@sums.ac.ir</email>
				<code>40162</code>
				<coreauthor>No</coreauthor>
				<affiliation>Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.</affiliation>
				<affiliation_fa></affiliation_fa>
				 </author><author>
				<first_name>Mehdi</first_name>
				<middle_name></middle_name>
				<last_name>Dianatpour</last_name>
				<suffix></suffix>
				<first_name_fa></first_name_fa>
				<middle_name_fa></middle_name_fa>
				<last_name_fa></last_name_fa>
				<suffix_fa></suffix_fa>
				<email>dianatpour@sums.ac.ir</email>
				<code>40163</code>
				<coreauthor>No</coreauthor>
				<affiliation>Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.</affiliation>
				<affiliation_fa></affiliation_fa>
				 </author><author>
				<first_name>Mohammad</first_name>
				<middle_name></middle_name>
				<last_name>Miryounesi</last_name>
				<suffix></suffix>
				<first_name_fa></first_name_fa>
				<middle_name_fa></middle_name_fa>
				<last_name_fa></last_name_fa>
				<suffix_fa></suffix_fa>
				<email>miryounesi@razi.tums.ac.ir</email>
				<code>40159</code>
				<coreauthor>Yes</coreauthor>
				<affiliation>Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.</affiliation>
				<affiliation_fa></affiliation_fa>
				 </author></author_list>
				</article>
			</articleset>
			</journal>