(Q34615036)

3 August 2017

title

The Ohdo blepharophimosis syndrome: a third case (English)

1 reference

3 August 2017

Biesecker LG

1

1 reference

3 August 2017

language of work or name

English

0 references

publication date

1 February 1991

1 reference

Journal of Medical Genetics

3 August 2017

published in

1 reference

3 August 2017

volume

28

1 reference

3 August 2017

issue

2

1 reference

3 August 2017

page(s)

131-134

1 reference

A syndrome of mental and physical etardation, speech disorders, and peculiar facies in two sisters

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016784

Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016784

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016784

Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016784

A 26-month-old child with Marden-Walker syndrome and pyloric stenosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016784

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016784

Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016784

Choanal atresia and associated multiple anomalies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016784

The fetal alcohol syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016784

Phenotypic overlap of the BBB and G syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016784

Chondrodystrophic myotonia (Schwartz-Jampel syndrome): report of a new case and follow-up of patients initially reported in 1969

7 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2002485

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Diagnostic criteria for the whistling face syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2002485

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.28.2.131

1 reference

3 August 2017

1 reference

3 August 2017

1 reference