(Q39784079)

14 September 2017

title

A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation (English)

1 reference

14 September 2017

Kondoh T

1

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14 September 2017

Okamoto N

2

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14 September 2017

Norimatsu N

3

1 reference

14 September 2017

Uetani M

4

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14 September 2017

Nishimura G

5

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14 September 2017

Moriuchi H

6

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14 September 2017

publication date

31 January 2007

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Journal of Human Genetics

14 September 2017

published in

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14 September 2017

volume

52

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14 September 2017

issue

4

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14 September 2017

page(s)

370-373

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The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia

14 September 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0108-7

Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome

21 January 2018

1 reference

12 December 2020

Filamin A: phenotypic diversity

1 reference

12 December 2020

Oto-palato-digital syndrome with features of type I and II in brothers.

1 reference

12 December 2020

The oto-palato-digital syndrome, proposed type II.

1 reference

12 December 2020

Multiple congenital anomalies associated with an oto-palato-digital syndrome type II.

1 reference

12 December 2020

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

1 reference

12 December 2020

Acro-coxo-mesomelic dwarfism: a new variety of autosomal recessive dwarfism

1 reference

12 December 2020

Abnormal facies, cleft palate, and generalized dysostosis: A lethal X-linked syndrome

1 reference

12 December 2020

Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28

1 reference

12 December 2020

Tentative assignment of gene for oto-palato-digital syndrome to distal Xq (Xq26-q28)

1 reference

12 December 2020

Generalized skeletal dysplasia with multiple anomalies. A note on Pyle's disease

1 reference

12 December 2020

Melnick-Needles syndrome in a mother and her son

1 reference

12 December 2020

A familial syndrome of cranial, facial, oral and limb anomalies

1 reference

12 December 2020

Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia

1 reference

12 December 2020

Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred

1 reference

12 December 2020

Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia

1 reference

12 December 2020

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

12 December 2020

Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome

1 reference

12 December 2020

10.1007/S10038-007-0108-7

Identifiers

DOI

1 reference

14 September 2017

1 reference