{"version":"1.0","provider_name":"JMG Contact blog","provider_url":"https:\/\/blogs.bmj.com\/jmg","author_name":"hqqu","author_url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/","title":"Mosaicism and incomplete penetrance of PCDH19 mutations (Contributed by Dr. Aijie Liu) - JMG Contact blog","type":"rich","width":600,"height":338,"html":"<blockquote class=\"wp-embedded-content\" data-secret=\"zkkrgkbkUC\"><a href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/10\/04\/mosaicism-and-incomplete-penetrance-of-pcdh19-mutations\/\">Mosaicism and incomplete penetrance of PCDH19 mutations (Contributed by Dr. Aijie Liu)<\/a><\/blockquote><iframe sandbox=\"allow-scripts\" security=\"restricted\" src=\"https:\/\/blogs.bmj.com\/jmg\/2018\/10\/04\/mosaicism-and-incomplete-penetrance-of-pcdh19-mutations\/embed\/#?secret=zkkrgkbkUC\" width=\"600\" height=\"338\" title=\"&#8220;Mosaicism and incomplete penetrance of PCDH19 mutations (Contributed by Dr. Aijie Liu)&#8221; &#8212; JMG Contact blog\" data-secret=\"zkkrgkbkUC\" frameborder=\"0\" marginwidth=\"0\" marginheight=\"0\" scrolling=\"no\" class=\"wp-embedded-content\"><\/iframe><script type=\"text\/javascript\">\n\/* <![CDATA[ *\/\n\/*! This file is auto-generated *\/\n!function(d,l){\"use strict\";l.querySelector&&d.addEventListener&&\"undefined\"!=typeof URL&&(d.wp=d.wp||{},d.wp.receiveEmbedMessage||(d.wp.receiveEmbedMessage=function(e){var t=e.data;if((t||t.secret||t.message||t.value)&&!\/[^a-zA-Z0-9]\/.test(t.secret)){for(var s,r,n,a=l.querySelectorAll('iframe[data-secret=\"'+t.secret+'\"]'),o=l.querySelectorAll('blockquote[data-secret=\"'+t.secret+'\"]'),c=new RegExp(\"^https?:$\",\"i\"),i=0;i<o.length;i++)o[i].style.display=\"none\";for(i=0;i<a.length;i++)s=a[i],e.source===s.contentWindow&&(s.removeAttribute(\"style\"),\"height\"===t.message?(1e3<(r=parseInt(t.value,10))?r=1e3:~~r<200&&(r=200),s.height=r):\"link\"===t.message&&(r=new URL(s.getAttribute(\"src\")),n=new URL(t.value),c.test(n.protocol))&&n.host===r.host&&l.activeElement===s&&(d.top.location.href=t.value))}},d.addEventListener(\"message\",d.wp.receiveEmbedMessage,!1),l.addEventListener(\"DOMContentLoaded\",function(){for(var e,t,s=l.querySelectorAll(\"iframe.wp-embedded-content\"),r=0;r<s.length;r++)(t=(e=s[r]).getAttribute(\"data-secret\"))||(t=Math.random().toString(36).substring(2,12),e.src+=\"#?secret=\"+t,e.setAttribute(\"data-secret\",t)),e.contentWindow.postMessage({message:\"ready\",secret:t},\"*\")},!1)))}(window,document);\n\/\/# sourceURL=https:\/\/blogs.bmj.com\/jmg\/wp-includes\/js\/wp-embed.min.js\n\/* ]]> *\/\n<\/script>\n","description":"Point mutations or rearrangements involving the PCDH19 gene located on Xq22.1 cause epilepsy and mental retardation mainly in females. However, affected males with mosaic PCDH19 mutations have also been reported. It is hypothesized that cellular interference mechanism is the main pathogenic mechanism. In our 42 PCDH19-related epilepsy families, five mosaic individuals, four males and one [...]Read More...","thumbnail_url":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/10\/374026991174162090.jpg","thumbnail_width":800,"thumbnail_height":600}