Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome
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9q22 Deletion--first familial case.Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challengePTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French studyNBCCS secondary to an interstitial chromosome 9q deletion.Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delayDelineation of an interstitial 9q22 deletion in basal cell nevus syndrome
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Q35102714-71E23F9D-7817-4ABA-83B3-ECE4A239B142Q37167031-DCE21251-3659-46EB-8215-C4CE60CB4D3FQ42208514-CA733FBF-CA5C-4D89-9728-CD59E2ED3084Q42467030-65BE6FFC-4023-4C59-85EF-95C842DBF9A0Q54764863-595E176D-B7DD-42DE-98C7-DA7C128DE878Q56322223-5E9C053F-965C-44CB-B7BA-E3E5B0D7267BQ58061326-1CC87722-1FC5-4411-9E8C-D2ED7BB2EAA5
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Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome
description
im Januar 2004 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 January 2004
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в червні 2003
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name
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t
@nl
Interstitial deletion 9q22.32- ...... tures of Nail-Patella syndrome
@en
type
label
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t
@nl
Interstitial deletion 9q22.32- ...... tures of Nail-Patella syndrome
@en
prefLabel
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t
@nl
Interstitial deletion 9q22.32- ...... tures of Nail-Patella syndrome
@en
P2093
P2860
P50
P356
P1476
Interstitial deletion 9q22.32- ...... tures of Nail-Patella syndrome
@en
P2093
Barbara Panasiuk
Barbara Zadrozna-Tołwińska
Beata Stasiewicz-Jarocka
Eugeniusz Tarasów
Ewa Hubert
Ewa Wasilewska
James R Lupski
Kyra Michalova
Marie Kirchhoff
Paweł Stankiewicz
P2860
P304
P356
10.1002/AJMG.A.20367
P407
P50
P577
2004-01-01T00:00:00Z