The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

scientific article

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

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P356DOI10.1002/AJMG.A.32708
P3181OpenCitations bibliographic resource ID980971
P698PubMed publication ID19610107

P50authorMartin ZenkerQ71356275
P2093author name stringRichard C Trembath
Wim Wuyts
Diana Johnson
Margo Whiteford
Wayne Lam
Katie M G Snape
Deborah Ruddy
P2860cites workClinical and molecular analysis of nine families with Adams-Oliver syndromeQ28207518
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Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesisQ28255664
Hypoxia induces cardiac malformations via A1 adenosine receptor activation in chicken embryosQ28264264
Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variantQ28265149
Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genesQ28294970
Recognition of thalidomide defectsQ33594538
The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two casesQ33650158
Teratogen-induced limb defectsQ34926892
Aplasia cutis cerebri with partial acrania--total reconstruction in a severe case and review of the literatureQ35069659
Congenital scalp defects: Adams-Oliver syndrome. A case report and review of the literatureQ37067577
Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional casesQ37879832
Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasiaQ39366248
Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndromeQ39514832
Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literatureQ39559755
Aplasia cutis congenita: a clinical review and proposal for classificationQ39730288
Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generationsQ39799279
Aplasia cutis congenita: a report of 12 new families and review of the literatureQ39835774
Congenital scalp defect with distal limb reduction anomaliesQ40117330
Adams-Oliver syndrome: a case with juvenile chronic myelogenous leukemia and chylothoraxQ40806373
Acrania: a manifestation of the Adams-Oliver syndromeQ41105946
Adams-Oliver syndrome: genetics and associated anomalies of cutis aplasiaQ41653944
Adams-Oliver syndrome: further evidence of an autosomal recessive variantQ41918449
Adams Oliver syndrome: a family with extreme variability in clinical expressionQ41929280
Near fatal haemorrhage from the superior sagittal sinus in Adams-Oliver syndromeQ42963037
Scalp defect associated with postaxial polydactyly: confirmation of a distinct entity with autosomal dominant inheritanceQ44489085
Congenital heart defect in a Japanese girl with Adams-Oliver syndrome: one of the most important complicationsQ44777690
Adams-Oliver syndrome: aplasia cutis congenita, terminal transverse limb defects and cutis marmorata telangiectatica congenitaQ48217286
Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.Q48341793
Adams-Oliver syndrome with unusual central nervous system alterationsQ48515490
Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.Q51812078
Adams-Oliver syndrome: further evidence for autosomal recessive inheritance.Q51965257
A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: further evidence of vascular pathology?Q52087500
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?Q52521646
Transverse limb defects associated with aorto-pulmonary vascular abnormalities: vascular disruption sequence or atypical presentation of Adams-Oliver syndrome?Q52541357
Limb deficiencies in newborn infants.Q52544198
Autosomal recessive type of Adams-Oliver syndrome: prenatal diagnosis.Q52954615
Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.Q54572295
Adams-Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?Q57199424
The syndrome of aplasia cutis congenita with terminal, transverse defects of limbsQ57952015
P433issue8
P407language of work or nameEnglishQ1860
P304page(s)1860-81
P577publication date2009-08-01
P1433published inAmerican Journal of Medical Genetics Part AQ15755121
P1476titleThe spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects
P478volume149A

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cites work (P2860)
Q26858999A developmental and genetic classification for malformations of cortical development: update 2012
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Q54392633Adams-Oliver syndrome: new evidence in variable expressivity?
Q58328203An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum
Q48154143Aplasia Cutis Congenita Associated with Fetus Papyraceus
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Q41611215Conservative Healing of an 11 × 9-cm Aplasia Cutis Congenita of the Scalp with Bone Defect
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Q28266515Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
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Q42241390Multiple aplasia cutis congenita lesions located along Blaschko's lines in a patient with tetralogy of Fallot-A.
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