(Q47864003)

6 February 2018

title

Diagnostic dilemmas in the short rib-polydactyly syndrome group (English)

1 reference

6 February 2018

short rib – polydactyly syndrome

main subject

0 references

author name string

Nursel H Elçioglu

series ordinal

1

1 reference

6 February 2018

Christine M Hall

series ordinal

2

1 reference

6 February 2018

publication date

1 September 2002

1 reference

6 February 2018

American Journal of Medical Genetics Part A

published in

1 reference

6 February 2018

volume

111

1 reference

6 February 2018

issue

4

1 reference

6 February 2018

page(s)

392-400

1 reference

6 February 2018

A new short rib syndrome: report of two cases

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10562

Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10562

De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10562

Intractable apneic spells due to hypoplasia of the atlas in a patient with unclassifiable short-rib dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10562

Polysyndactyly, short limbs, and genital malformations--a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10562

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10562

Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10562

Short rib-polydactyly syndrome type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10562

Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10562

Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10562

21 January 2018

Identifiers

DOI

10.1002/AJMG.10562

1 reference

6 February 2018

release_pof7oj4umzae3axx5bt7zycj6m

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pof7oj4umzae3axx5bt7zycj6m

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

6 February 2018