(Q33595991)

28 July 2017

title

Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum (English)

1 reference

28 July 2017

Martínez-Frías ML

1

1 reference

28 July 2017

Bermejo E

2

1 reference

28 July 2017

Urioste M

3

1 reference

28 July 2017

Huertas H

4

1 reference

28 July 2017

Arroyo I

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 November 1993

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

30

1 reference

28 July 2017

issue

11

1 reference

28 July 2017

page(s)

937-941

1 reference

Non-Majewski short rib-polydactyly syndrome

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016603

A new short rib syndrome: report of two cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016603

Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016603

Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016603

Short rib syndrome--Beemer type in sibs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016603

Beemer-Langer syndrome with manifestations of an orofaciodigital 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=1016603

An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomalies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016603

A Case of Short Rib Polydactyly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016603

Difficulties in classification of the short rib-polydactyly syndromes.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016603

Brief clinical report: short rib-polydactyly syndrome, Majewski type

30 October 2018

1 reference

12 December 2020

Unusual short rib-polydactyly syndrome

1 reference

12 December 2020

Overlap between Majewski and hydrolethalus syndromes: a report of two cases

1 reference

12 December 2020

Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies

1 reference

12 December 2020

[Short rib-polydactyly with multiple visceral malformations (author's transl)]

1 reference

12 December 2020

[Lethal chondrodysplasia with short ribs, Majewski type. Diagnosis in utero]

1 reference

12 December 2020

Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.11.937

1 reference

28 July 2017

1 reference

28 July 2017

1 reference