(Q54088764)

24 May 2018

title

Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome. (English)

1 reference

24 May 2018

author name string

Cindy Hudson

1

1 reference

24 May 2018

Corbin Schwanke

2

1 reference

24 May 2018

John P Johnson

3

1 reference

24 May 2018

Abdallah F Elias

4

1 reference

24 May 2018

Sandy Phillips

5

1 reference

24 May 2018

Tammy Schwalbe

6

1 reference

24 May 2018

Mary Tunby

7

1 reference

24 May 2018

Dongbin Xu

8

1 reference

24 May 2018

language of work or name

English

0 references

publication date

8 April 2014

1 reference

24 May 2018

American Journal of Medical Genetics

published in

1 reference

24 May 2018

volume

164A

1 reference

24 May 2018

issue

8

1 reference

24 May 2018

page(s)

2109-2113

1 reference

24 May 2018

Genome-wide DNA methylation profiling of CpG islands in hypospadias

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004763

Acro-cardio-facial syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004763

4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004763

Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004763

Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004763

Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004763

Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004763

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004763

An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004763

Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004763

A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability

13 August 2018

2 references

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.36548

21 January 2018

12 December 2020

Clinical variability in acro-cardio-facial-syndrome

1 reference

PubMed

12 December 2020

Acro-cardio-facial syndrome: a microdeletion syndrome?

1 reference

PubMed

12 December 2020

Interstitial deletion of 6q21-q23 associated with split hand

1 reference

PubMed

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.36548

1 reference

24 May 2018

PMCID

5004763

1 reference

24 May 2018

PubMed ID

24715610

1 reference

24 May 2018