Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay
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The Role of Hedgehog Signaling in Tumor Induced Bone DiseaseInfantile hydrocephalus: a review of epidemiology, classification and causes.Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets.Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.Non-melanoma skin cancer: new and future synthetic drug treatments.Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1.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.Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomaliesThe Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes
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P2860
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay
description
im Februar 2012 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
@nl
наукова стаття, опублікована в лютому 2012
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name
Microdeletion 9q22.3 syndrome ...... somia, and developmental delay
@en
Microdeletion 9q22.3 syndrome ...... somia, and developmental delay
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type
label
Microdeletion 9q22.3 syndrome ...... somia, and developmental delay
@en
Microdeletion 9q22.3 syndrome ...... somia, and developmental delay
@nl
prefLabel
Microdeletion 9q22.3 syndrome ...... somia, and developmental delay
@en
Microdeletion 9q22.3 syndrome ...... somia, and developmental delay
@nl
P2093
P2860
P356
P1476
Microdeletion 9q22.3 syndrome ...... somia, and developmental delay
@en
P2093
Albert E Chudley
Alison M Elliott
Bryan D Hall
David A Stevenson
David B Everman
David W Stockton
Emma Kivuva
Eric A Muller
Erin P Carmany
Gail E Herman
P2860
P356
10.1002/AJMG.A.34216
P407
P577
2012-02-01T00:00:00Z