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

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

Item
http://www.wikidata.org/entity/Q34686658
Absence makes the search grow longerMedical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.Two sisters with Toriello-Carey syndrome.Agenesis of corpus callosum and dementia of the Alzheimer's type: a review and case report.Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.Provisionally unique autosomal recessive syndrome due to significant consanguinity.Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients.Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review.Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome.Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay.Dental and dentofacial problems in a female child with Toriello-Carey -syndrome: changes in 3 years.Toriello Carey syndrome: genetic, clinical, and oral considerations: a case report.Toriello-Carey syndrome: case report with additional findings.DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings
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Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome?

Item
http://www.wikidata.org/entity/Q34686658
description
1988 nî lūn-bûn
@nan
1988 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Corpus callosum agenesis, faci ...... autosomal recessive syndrome?
@ast
Corpus callosum agenesis, faci ...... autosomal recessive syndrome?
@en
Corpus callosum agenesis, faci ...... autosomal recessive syndrome?
@nl
type
label
Corpus callosum agenesis, faci ...... autosomal recessive syndrome?
@ast
Corpus callosum agenesis, faci ...... autosomal recessive syndrome?
@en
Corpus callosum agenesis, faci ...... autosomal recessive syndrome?
@nl
prefLabel
Corpus callosum agenesis, faci ...... autosomal recessive syndrome?
@ast
Corpus callosum agenesis, faci ...... autosomal recessive syndrome?
@en
Corpus callosum agenesis, faci ...... autosomal recessive syndrome?
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Corpus callosum agenesis, faci ...... autosomal recessive syndrome?
@en
P2093
P304
P31
P356
P433
P478
P577
P698