Gonosomal versus somatogonadal mosaicism: What is in a name?-Reference-Cited by-同舟云学术

Gonosomal versus somatogonadal mosaicism: What is in a name?

Published:2019-05-21 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Happle Rudolf¹^ORCID

Affiliation:

1. Department of DermatologyMedical Center–University of Freiburg Freiburg Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61204

Reference9 articles.

1. Gonosomal mosaicism for an NF1 deletion in a sperm donor: Evidence of the need for coordinated, long‐term communication of health information among relevant parties;Callum P.;Human Reproduction,2012

2. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1;Consoli C.;Journal of Investigative Dermatology,2005

3. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother;Faivre L.;American Journal of Medical Genetics,2006

4. Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm;Jansen G.;American Journal of Human Genetics,1994

5. Chinese family with diffuse oesophageal leiomyomatosis: A new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism;Liu W.;BMC Medical Genetics,2015

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1. Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin‑Siris syndrome 1;Experimental and Therapeutic Medicine;2021-04-14

2. A six-attribute classification of geneticmosaicism;Genetics in Medicine;2020-11

3. Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy;American Journal of Medical Genetics Part A;2019-12-19

4. SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation;Clinical Dysmorphology;2019-10