Bone Dysplasia Corpus Callosum Agenesis Latest Advances

Microcephaly, Agenesis of the Corpus Callosum, and Suspected Blake Pouch Cyst Presenting With Failure to Thrive in an Infant.

Journal: Cureus

Published: July 13, 2026

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Journal: Prenatal diagnosis

Published: May 07, 2026

A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis.

Journal: HGG advances

Published: January 23, 2026

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 -Related Developmental Disorders.

Journal: American journal of medical genetics. Part A

Published: January 16, 2026

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

Journal: Children (Basel, Switzerland)

Published: September 25, 2025

Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.

Journal: American journal of medical genetics. Part A

Published: August 18, 2025

Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature.

Journal: Frontiers in medicine

Published: July 03, 2025

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

Journal: American journal of medical genetics. Part A

Published: April 24, 2025

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

Journal: Clinical case reports

Published: March 21, 2025

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

Journal: Case reports in perinatal medicine

Published: October 19, 2024

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

Journal: Molecular syndromology

Published: June 05, 2024

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

Journal: American journal of medical genetics. Part A

Published: January 19, 2024

Bone Dysplasia Corpus Callosum Agenesis Latest Advances

Find the Latest Research About Bone Dysplasia Corpus Callosum Agenesis

Microcephaly, Agenesis of the Corpus Callosum, and Suspected Blake Pouch Cyst Presenting With Failure to Thrive in an Infant.

Microcephaly, Agenesis of the Corpus Callosum, and Suspected Blake Pouch Cyst Presenting With Failure to Thrive in an Infant.

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis.

A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis.

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 -Related Developmental Disorders.

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 -Related Developmental Disorders.

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.

Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.

Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.

Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature.

Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature.

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.

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.