(Q34147616)

31 July 2017

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title

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations (English)

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31 July 2017

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6

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Alexander Hoischen

5

object named as

Alexander Hoischen

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31 July 2017

Hartmut Engels

1

1 reference

31 July 2017

Kristin Bosse

2

1 reference

31 July 2017

Antje Ehrbrecht

3

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31 July 2017

Susanne Zahn

4

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31 July 2017

Lutz Bindl

7

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31 July 2017

Heiko Reutter

8

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31 July 2017

publication date

1 August 2002

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American Journal of Medical Genetics Part A

31 July 2017

published in

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31 July 2017

volume

111

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31 July 2017

issue

2

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31 July 2017

page(s)

205-209

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A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity.

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

Familial cryptic translocation with del 4q34-->qter and dup 12pter-->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

Cryptic translocation t(5;18) in familial mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

Detection of submicroscopic subtelomeric chromosome translocations: a new case study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10560

21 January 2018

Identifiers

DOI

10.1002/AJMG.10560

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31 July 2017

1 reference