Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. (Q42180930)

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23 February 2020

title

Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3 (English)

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23 February 2020

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4

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23 February 2020

author name string

Atsuko Harada

1

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23 February 2020

Fuyuki Miya

2

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23 February 2020

Hidetsuna Utsunomiya

3

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23 February 2020

Takumi Yamanaka

5

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23 February 2020

Tatsuhiko Tsunoda

6

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23 February 2020

Kenjiro Kosaki

7

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23 February 2020

Yonehiro Kanemura

8

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23 February 2020

Mami Yamasaki

9

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23 February 2020

publication date

22 November 2014

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23 February 2020

published in

Child's Nervous System

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23 February 2020

volume

31

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23 February 2020

issue

3

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23 February 2020

page(s)

465-471

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A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features

23 February 2020

cites work

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Macrocephaly with cutis marmorata, haemangioma and syndactyly ??? a distinctive overgrowth syndrome

21 January 2018

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12 December 2020

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

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The role of nocturnal polysomnography in assessing children with Chiari type I malformation

21 January 2018

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Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature

21 January 2018

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Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis

21 January 2018

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Apnea and macrocephaly-cutis marmorata telangiectatica congenita

21 January 2018

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Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations

21 January 2018

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Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes

21 January 2018

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Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review

21 January 2018

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Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update

21 January 2018

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Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

21 January 2018

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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures

21 January 2018

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Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

21 January 2018

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Endoscopic third ventriculostomy to treat hydrocephalus associated with macrocephaly-cutis marmorata telangiectatica congenita

21 January 2018

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AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

21 January 2018

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 January 2018

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Macrocephaly — cutis marmorata telangiectatica congenita

21 January 2018

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The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations.

21 January 2018

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Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome

21 January 2018

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Macrocephaly-cutis marmorata telangiectatica congenita

21 January 2018

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12 December 2020

Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM).

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12 December 2020

Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities

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12 December 2020

Hemihypertrophy, hemimegalencephaly, and polydactyly

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12 December 2020

A distinctive overgrowth syndrome with polysyndactyly

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12 December 2020

Macrocephaly--cutis marmorata telangiectatica congenita: report of five patients and a review of the literature.

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12 December 2020

Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three cases

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12 December 2020

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

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12 December 2020