(Q50483209)

14 March 2018

title

De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia. (English)

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14 March 2018

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Manolis J Papagrigorakis

1

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14 March 2018

Philippos N Synodinos

2

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14 March 2018

Constandinos P Daliouris

3

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14 March 2018

Caterina Metaxotou

4

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14 March 2018

publication date

24 June 2003

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14 March 2018

European Journal of Pediatrics

published in

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14 March 2018

volume

162

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14 March 2018

issue

9

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14 March 2018

page(s)

594-597

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14 March 2018

https://scigraph.springernature.com/pub.10.1007/s00431-003-1262-3

exact match

0 references

cites work

Craniofacial and extracranial malformations in the Klippel-Feil syndrome.

1 reference

12 December 2020

Heterogeneity in Klippel-Feil syndrome: a new classification

1 reference

12 December 2020

Craniofacial characteristics of Klippel-Feil syndrome in an eight year old female

1 reference

12 December 2020

Klippel-Feil anomaly with sacral agenesis: an additional subtype, type IV.

1 reference

12 December 2020

Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3).

1 reference

12 December 2020

Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies. A new syndrome?

1 reference

12 December 2020

Klippel-Feil syndrome; a constellation of associated anomalies.

1 reference

12 December 2020

Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III

1 reference

12 December 2020

De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly

1 reference

12 December 2020

KLIPPEL-FEIL'S SYNDROME.

1 reference

12 December 2020

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

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12 December 2020

Case report: Klippel-Feil syndrome with coexistent hypoparathyroidism.

1 reference

12 December 2020

Audiological abnormalities in the Klippel-Feil syndrome

1 reference

12 December 2020

Mutation of PAX9 is associated with oligodontia

1 reference

12 December 2020

A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1.

1 reference

12 December 2020

Autosomal dominant Klippel-Feil anomaly with cleft palate

1 reference

12 December 2020

Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign

1 reference

12 December 2020

Identification of a nonsense mutation in the PAX9 gene in molar oligodontia

1 reference

12 December 2020

The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion

1 reference

12 December 2020

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia

1 reference

12 December 2020

Autosomal recessive Klippel-Feil syndrome

1 reference

12 December 2020

The Klippel-Feil syndrome: a constellation of deformities

1 reference

12 December 2020

The axial mesodermal dysplasia spectrum

1 reference

12 December 2020

10.1007/S00431-003-1262-3

Identifiers

DOI

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14 March 2018

release_hn77s55wivdyvjw326z4itu4mm

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hn77s55wivdyvjw326z4itu4mm

24 November 2022

mapped directly with Wikidata item

1 reference

14 March 2018