Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly-Reference-Cited by-同舟云学术

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly

Published:2018-06 Issue:2 Volume:178 Page:175-186
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Hu Tommy¹,Kruszka Paul¹^ORCID,Martinez Ariel F.¹^ORCID,Ming Jeffrey E.²,Shabason Emily K.¹³,Raam Manu S.¹⁴⁵,Shaikh Tamim H.⁶⁷,Pineda‐Alvarez Daniel E.¹³,Muenke Maximilian¹

Affiliation:

1. Medical Genetics Branch, National Human Genome Research InstituteNational Institutes of HealthBethesda Maryland

2. Division of Human Genetics, The Children's Hospital of PhiladelphiaUniversity of Pennsylvania School of MedicinePhiladelphia Pennsylvania

3. Division of Developmental and Behavioral PediatricsChildren's Hospital of PhiladelphiaPhiladelphia Pennsylvania

4. General Pediatrics Services Shriners for Children Medical CenterPasadena California

5. General Pediatrics Services Children's Hospital Los AngelesLos Angeles California

6. Department of PediatricsUniversity of Colorado School of MedicineAurora Colorado

7. Invitae CorporationSan Francisco California

Funder

National Institutes of Health

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31622

Reference50 articles.

1. Genome structural variation discovery and genotyping

2. A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans

3. Pathogenic mutations inGLI2cause a specific phenotype that is distinct from holoprosencephaly

4. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature

5. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

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