Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency
Resource Type
Abstract
Authors
Rope, Alan F ; Wang, Kai ; Evjenth, Rune ; Xing, Jinchuan ; Johnston, Jennifer J ; Swensen, Jeffrey J ; Johnson, Evan W ; Moore, Barry ; Huff, Chad D ; Bird, Lynne M ; Carey, John C ; Opitz, John M ; Stevens, Cathy A ; Schank, Christa ; Fain, Deborah Heidi ; Robison, Reid ; Dalley, Brian ; Chin, Steven ; South, Sarah T ; Pysher, Theodore J ; Jorde, Lynn B ; Hakonarson, Hakon ; Lillehaug, Johan R ; Biesecker, Leslie G ; Yandell, Mark ; Arnesen, Thomas ; Lyon, Gholson J
Source
Genome Biology . 12(Suppl 1)
Subject
Cryptorchidism Global Developmental Delay Gene Prioritization Candidate Gene Prioritization Exon Capture
Language
English
ISSN
1474-760X