Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.

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Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.

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2017 nî lūn-bûn

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Clinical Variability in Famili ...... nner Type with MED12 Mutation.

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Clinical Variability in Famili ...... nner Type with MED12 Mutation.

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Clinical Variability in Famili ...... nner Type with MED12 Mutation.

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Clinical Variability in Famili ...... nner Type with MED12 Mutation.

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Clinical Variability in Famili ...... nner Type with MED12 Mutation.

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Clinical Variability in Famili ...... nner Type with MED12 Mutation.

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P1476

Clinical Variability in Famili ...... nner Type with MED12 Mutation.

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P2093

Anju Shukla

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Katta M Girisha

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Pooja N Rao

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Puneeth H Somashekar

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Satish Siddaiah

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Siddaramappa J Patil

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P2860

Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth.

Two additional cases of the Ohdo blepharophimosis syndrome.

Mutations in MED12 cause X-linked Ohdo syndrome

Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation

Two male sibs with severe micrognathia and a missense variant in MED12.

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Elements of morphology: standard terminology for the periorbital region.

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

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198-204

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scholarly article

case report

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10.1055/S-0037-1602386

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P433

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P478

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Venkatraman Bhat

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2017-04-24T00:00:00Z

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28794916

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5548526

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