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-Reference-Cited by-同舟云学术

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

Published:2006 Issue:12 Volume:140A Page:1285-1296
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Verloes Alain,Bremond-Gignac Dominique,Isidor Bertrand,David Albert,Baumann Clarisse,Leroy Marie-Anne,Stevens René,Gillerot Yves,Héron Delphine,Héron Bénédicte,Benzacken Brigitte,Lacombe Didier,Brunner Han,Bitoun Pierre

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference36 articles.

1. Interstitial deletion of the long arm of chromosome 3: Case report, review, and definition of a phenotype

2. The Ohdo blepharophimosis syndrome: a third case.

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

4. Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.

5. Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth

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1. De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report;Journal of Medical Case Reports;2024-01-05

2. Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome;Investigative Opthalmology & Visual Science;2023-03-09

3. MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability;Seizure;2023-02

4. MED12 Mutation in Two Families with X-Linked Ohdo Syndrome;Genes;2021-08-27

5. Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants;Frontiers in Medicine;2021-08-26