Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.
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A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report.Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis
P2860
Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.
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2016 nî lūn-bûn
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2016年の論文
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name
Comprehensive review of the du ...... ovo duplication 3q26.32-q27.2.
@en
type
label
Comprehensive review of the du ...... ovo duplication 3q26.32-q27.2.
@en
prefLabel
Comprehensive review of the du ...... ovo duplication 3q26.32-q27.2.
@en
P2093
P2860
P356
P1433
P1476
Comprehensive review of the du ...... ovo duplication 3q26.32-q27.2.
@en
P2093
C Crétolle
G C Dworschak
P2860
P304
P356
10.1111/CGE.12848
P577
2016-08-23T00:00:00Z