(Q33682207)

28 July 2017

Achondroplasia in sibs of normal parents (English)

1 reference

28 July 2017

Philip N

1

1 reference

28 July 2017

Auger M

series ordinal

2

1 reference

28 July 2017

Mattei JF

series ordinal

3

1 reference

28 July 2017

Giraud F

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 1988

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

25

1 reference

28 July 2017

857-859

1 reference

28 July 2017

12

1 reference

Achondroplasia: unexpected familial recurrence

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051619

Familial recurrence of achondroplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051619

Gonadal mosaicism in pseudoachondroplasia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051619

Germinal mosaicism in Apert syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051619

Achondroplasia in two sisters with normal parents

30 October 2018

1 reference

12 December 2020

Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents

1 reference

12 December 2020

GENETICS OF TUBEROUS SCLEROSIS

1 reference

12 December 2020

"Unstable premutation" in achondroplasia: penetrance vs phenotrance

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.25.12.857

0 references

PMCID

1051619

1 reference

28 July 2017

1 reference