(Q58193332)

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The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings

article published in 2011

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The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings (English)

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3

Bruno Dallapiccola

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author name string

Maria Lisa Dentici

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1

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Rita Mingarelli

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2

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language of work or name

English

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publication date

22 February 2011

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published in

American Journal of Medical Genetics

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volume

155

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issue

3

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page(s)

459-465

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cites work

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature

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reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33642

retrieved

21 January 2018

The Ohdo blepharophimosis syndrome: a third case

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https://api.crossref.org/works/10.1002%2FAJMG.A.33642

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21 January 2018

Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).

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reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33642

retrieved

21 January 2018

Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.

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https://api.crossref.org/works/10.1002%2FAJMG.A.33642

retrieved

21 January 2018

Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay

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https://api.crossref.org/works/10.1002%2FAJMG.A.33642

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21 January 2018

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

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21 January 2018

Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities.

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reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33642

retrieved

21 January 2018

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

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https://api.crossref.org/works/10.1002%2FAJMG.A.33642

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21 January 2018

Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome?

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https://api.crossref.org/works/10.1002%2FAJMG.A.33642

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21 January 2018

Congenital malformations of the eye and orbit

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21 January 2018

Elements of morphology: standard terminology for the periorbital region.

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https://api.crossref.org/works/10.1002%2FAJMG.A.33642

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21 January 2018

The Smith-Lemli-Opitz syndrome

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https://api.crossref.org/works/10.1002%2FAJMG.A.33642

retrieved

21 January 2018

Malformation syndromes due to inborn errors of cholesterol synthesis

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https://api.crossref.org/works/10.1002%2FAJMG.A.33642

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21 January 2018

Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?

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21 January 2018

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

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21 January 2018

Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome?

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https://api.crossref.org/works/10.1002%2FAJMG.A.33642

retrieved

21 January 2018

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33642

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21 January 2018

Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33642

retrieved

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.33642

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PubMed publication ID

21567902

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(Q58193332)

The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings

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