Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion-Reference-Cited by-同舟云学术

Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion

Published:2014-04 Issue:5 Volume:57 Page:195-199
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Blanchard Marina,Dubourg Christèle^ORCID,Pasquier Laurent,Odent Sylvie,Lucas Josette,Quélin Chloé,Launay Erika,Akloul Linda,Henry Catherine,Belaud-Rotureau Marc-Antoine,Dugay Frédéric,Jaillard Sylvie

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference19 articles.

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3. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1;Goudie;Nat Genet,2011

4. Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review;Heller;J Med Genet,2000

5. Patient with partial trisomy 9q and learning disability but no pyloric stenosis;Hengstschläger;Dev Med Child Neurol,2004

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1. Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion;Cytogenetic and Genome Research;2023

2. Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring;Clinical Dysmorphology;2017-10