The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations.
about
Cutis marmorata telangiectatica congenita: a mimicker of a common disorder.Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis.Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.Two cases of hemihyperplasia-multiple lipomatosis syndrome and review of asymmetric hemihyperplasia syndromes.Diffuse capillary malformation in association with fetal pleural effusion: report of five patients.Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management.Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic diseaseSonographic screening for Wilms tumor in children with CLOVES syndrome.Strokelike episodes and cutis marmorata telangiectatica congenita.Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.Capillary-venous malformation in the lower limb.Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS).Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.Commentary on "Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea".Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
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P2860
The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on March 2009
@en
vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The misnomer "macrocephaly-cut ...... phaly-capillary malformations.
@en
The misnomer "macrocephaly-cut ...... phaly-capillary malformations.
@nl
type
label
The misnomer "macrocephaly-cut ...... phaly-capillary malformations.
@en
The misnomer "macrocephaly-cut ...... phaly-capillary malformations.
@nl
prefLabel
The misnomer "macrocephaly-cut ...... phaly-capillary malformations.
@en
The misnomer "macrocephaly-cut ...... phaly-capillary malformations.
@nl
P2093
P50
P1433
P1476
The misnomer "macrocephaly-cut ...... ephaly-capillary malformations
@en
P2093
Dakara Rucker Wright
Helen T Shin
Julie V Schaffer
Sarah Chamlin
P304
P356
10.1001/ARCHDERMATOL.2008.545
P577
2009-03-01T00:00:00Z