A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.
about
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.A ceRNA approach may unveil unexpected contributors to deletion syndromes, the model of 5q- syndrome.Role of GLI Transcription Factors in Pathogenesis and Their Potential as New Therapeutic Targets
P2860
A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
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name
A de novo 10.79 Mb interstitia ...... report and literature review.
@en
type
label
A de novo 10.79 Mb interstitia ...... report and literature review.
@en
prefLabel
A de novo 10.79 Mb interstitia ...... report and literature review.
@en
P2093
P2860
P1476
A de novo 10.79 Mb interstitia ...... e report and literature review
@en
P2093
Chih-Kang Huang
Deqiong Ma
Elaine Pereira
Joy Samanich
K H Ramesh
Linda A Cannizzaro
Netra Prasad Punjabi
Rizwan Naeem
Robert Marion
P2860
P2888
P356
10.1186/S13039-014-0085-4
P577
2014-11-26T00:00:00Z
P5875
P6179
1010763494