Cerebral dysgenesis does not exclude OFD I syndrome

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Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

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Q33872321-D566F8C8-F1CB-42C7-B0EF-BF438D464471 Q36035743-EAFA01A9-8256-48C5-8EFF-C404306C771A

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Cerebral dysgenesis does not exclude OFD I syndrome

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http://www.wikidata.org/entity/Q57199588

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im Januar 2011 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в січні 2011

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Cerebral dysgenesis does not exclude OFD I syndrome

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Cerebral dysgenesis does not exclude OFD I syndrome

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Cerebral dysgenesis does not exclude OFD I syndrome

@en

Cerebral dysgenesis does not exclude OFD I syndrome

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Cerebral dysgenesis does not exclude OFD I syndrome

@en

Cerebral dysgenesis does not exclude OFD I syndrome

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Cerebral dysgenesis does not exclude OFD I syndrome

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Bernard Aral

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Christel Thauvin-Robinet

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Frédéric Huet

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Gaëtan Lesca

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Jocelyne Attia-Sobol

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Laurence Faivre

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Lucie Gueneau

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Marie-Thérèse Zabot

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Marina Macca

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Nadège Gigot

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P2860

Identification of the gene for oral-facial-digital type I syndrome

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Neuropathologic findings in a case of OFDS type VI (Váradi syndrome).

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

The molecular basis of oral-facial-digital syndrome, type 1.

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly.

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

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455-457

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scholarly article

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10.1002/AJMG.A.33812

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English

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155

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Tania Attié-Bitach

Brunella Franco

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2011-01-13T00:00:00Z

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21271673

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Cerebral dysgenesis does not exclude OFD I syndrome

about

P2860

P2860

Cerebral dysgenesis does not exclude OFD I syndrome

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698