Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

about

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

P2860

Q33567047-23597618-4A8D-4AD4-AAC3-59A7B91CFA65

P2860

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

Item

http://www.wikidata.org/entity/Q52817411

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

@en

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

@nl

type

Item

label

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

@en

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

@nl

prefLabel

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

@en

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

@nl

P1476

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

@en

P2093

Alistair Calder

http://www.w3.org/2001/XMLSchema#string

Angela Barnicoat

http://www.w3.org/2001/XMLSchema#string

Angus Clarke

http://www.w3.org/2001/XMLSchema#string

Colin Wallis

http://www.w3.org/2001/XMLSchema#string

Danielle Lynch

http://www.w3.org/2001/XMLSchema#string

Debbie Shears

http://www.w3.org/2001/XMLSchema#string

Elizabeth Bhoj

http://www.w3.org/2001/XMLSchema#string

Francois Bernier

http://www.w3.org/2001/XMLSchema#string

Jenny Morton

http://www.w3.org/2001/XMLSchema#string

Jill Clayton-Smith

http://www.w3.org/2001/XMLSchema#string

P2860

Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs

The spliceosome: design principles of a dynamic RNP machine

Cerebrocostomandibular syndrome in four sibs, two pairs of twins.

Regulation of alternative splicing by the core spliceosomal machinery.

Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: a new pattern of defective development.

Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review.

Cerebro-costo-mandibular syndrome. A new familial developmental disorder.

Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence.

Cerebro-costo-mandibular syndrome: long term follow-up of a patient and review of the literature.

A review of craniofacial disorders caused by spliceosomal defects.

P304

1115-1126

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/AJMG.A.37587

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

170A

http://www.w3.org/2001/XMLSchema#string

P50

P577

2016-03-12T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

298338318

http://www.w3.org/2001/XMLSchema#string

P698

26971886

http://www.w3.org/2001/XMLSchema#string

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

about

P2860

P2860

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698