Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.
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Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literatureCurrent concepts of polymicrogyria.Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis.Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation 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.Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.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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Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
@zh-hans
2004年学术文章
@zh-my
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2004年學術文章
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name
Macrocephaly-cutis marmorata t ...... usual cerebral manifestations.
@en
Macrocephaly-cutis marmorata t ...... usual cerebral manifestations.
@nl
type
label
Macrocephaly-cutis marmorata t ...... usual cerebral manifestations.
@en
Macrocephaly-cutis marmorata t ...... usual cerebral manifestations.
@nl
prefLabel
Macrocephaly-cutis marmorata t ...... usual cerebral manifestations.
@en
Macrocephaly-cutis marmorata t ...... usual cerebral manifestations.
@nl
P2093
P356
P1476
Macrocephaly-cutis marmorata t ...... usual cerebral manifestations.
@en
P2093
Albert David
Dominique Bonneau
Fabienne Giuliano
Nicole Philip
Patrick Edery
Sabine Sigaudy
P304
P356
10.1002/AJMG.A.20551
P407
P577
2004-04-01T00:00:00Z