Bone Dysplasia Corpus Callosum Agenesis Latest Advances

Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Published: October 30, 2023

An Infant With Primrose Syndrome: A Case Report.

Journal: Cureus

Published: October 03, 2023

Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction, skeletal, cerebral and vascular anomalies.

Journal: Prenatal diagnosis

Published: March 24, 2023

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.

Journal: Orphanet journal of rare diseases

Published: March 06, 2023

Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report.

Journal: Frontiers in genetics

Published: March 03, 2023

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From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.

From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5.

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5.

Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15-A Novel Report.

Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15-A Novel Report.

Rare features in Feingold syndrome type 1.

Rare features in Feingold syndrome type 1.

Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.

Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.

Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.

Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.

Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.

Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.

Human diprosopus: Case report of a rare congenital abnormality.

Human diprosopus: Case report of a rare congenital abnormality.

An Infant With Primrose Syndrome: A Case Report.

An Infant With Primrose Syndrome: A Case Report.

Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction, skeletal, cerebral and vascular anomalies.

Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction, skeletal, cerebral and vascular anomalies.

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.

Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report.

Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report.