(Q48502990)

12 February 2018

title

The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes. (English)

1 reference

12 February 2018

main subject

congenital heart disease

1 reference

Digilio MC

1

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12 February 2018

Marino B

series ordinal

2

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12 February 2018

Giannotti A

series ordinal

3

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12 February 2018

Dallapiccola B

series ordinal

4

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12 February 2018

publication date

1 January 1997

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12 February 2018

American Journal of Medical Genetics Part A

published in

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12 February 2018

volume

68

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12 February 2018

issue

1

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12 February 2018

page(s)

110-112

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12 February 2018

Hydrolethalus syndrome in consecutive African siblings

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Oral-facial-digital syndrome: report on a transitional type between the Mohr and Váradi syndromes in a fetus

21 January 2018

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Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence

21 January 2018

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Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal

21 January 2018

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Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations

21 January 2018

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Twin fetuses with abnormalities that overlap with three midline malformation complexes

21 January 2018

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Polysyndactyly, short limbs, and genital malformations--a new syndrome?

21 January 2018

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Nonrandom association of atrioventricular canal and del (8p) syndrome

21 January 2018

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Congenital heart disease in patients with Down's syndrome: anatomic and genetic aspects

21 January 2018

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Polysplenia: a review of 146 cases

21 January 2018

1 reference

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Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective

21 January 2018

1 reference

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Diagnostic problems in a case with mucometrocolpos, polydactyly, congenital heart disease, and skeletal dysplasia.

21 January 2018

1 reference

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Oral-facial-skeletal syndromes

21 January 2018

1 reference

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Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p

21 January 2018

1 reference

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Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome

21 January 2018

1 reference

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Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

21 January 2018

1 reference

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Heart malformation as a feature of the Mohr syndrome

21 January 2018

1 reference

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Atrioventricular canal and 8p- syndrome

21 January 2018

1 reference

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Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome

21 January 2018

1 reference

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Two cases of congenital hypothalamic hamartoblastoma, polydactyly, and other congenital anomalies (Pallister-Hall syndrome)

21 January 2018

1 reference

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Prenatal diagnosis of Mohr syndrome by ultrasonography

21 January 2018

1 reference

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Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: a specific association

21 January 2018

1 reference

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Congenital heart disease and chondroectodermal dysplasia. Report of two cases, one in a Negro

21 January 2018

1 reference

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Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome

21 January 2018

1 reference

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HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.

21 January 2018

1 reference

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Post-axial hexodactily and single atrium: a new syndrome?

21 January 2018

1 reference

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The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970110%2968%3A1%3C110%3A%3AAID-AJMG25%3E3.0.CO%3B2-W

10.1002/(SICI)1096-8628(19970110)68:1<110::AID-AJMG25>3.0.CO;2-W

21 January 2018

Identifiers

DOI

1 reference

12 February 2018

1 reference

12 February 2018