Grix Blankenship Peterson Syndrome Latest Advances

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: January 23, 2025

Floating-Harbor Syndrome: A Systematic Literature Review and Case Report.

Journal: Journal of clinical medicine

Published: April 25, 2024

Surgical Management of Hip Dislocation in a Patient with SCARF Syndrome: A Case Report with a 6-Year Follow-up.

Journal: JBJS case connector

Published: April 13, 2023

mef2ca and mef2cb Double Mutant Zebrafish Show Altered Craniofacial Phenotype and Motor Behaviour.

Journal: Biomolecules

Published: March 28, 2023

Repair of Protruding Bilateral Cleft Lip and Palate With Staged Premaxilla Setback Osteotomy, Cheiloplasty, and Palatoplasty in Trisomy 17p Patient: A Review of Syndromic Clinical Characteristic.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: December 30, 2021

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.

Journal: Scientific reports

Published: April 27, 2021

Nervous system involvement in Pfeiffer syndrome.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: June 14, 2020

Six-year follow-up of a survivor of cervical spine fracture and dislocation with oesophageal perforation following long scarf syndrome - a case report and literature review.

Journal: BMC musculoskeletal disorders

Published: May 14, 2020

Mid-trimester fetal facial dysmorphology associated with 2p25.3 microdeletion.

Journal: Journal of clinical ultrasound : JCU

Published: February 24, 2020

Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome.

Journal: Surgical and radiologic anatomy : SRA

Published: February 24, 2020

Clinical and molecular spectrum of CHOPS syndrome.

Journal: American journal of medical genetics. Part A

Published: December 27, 2018

Clinical study of dentocraniofacial characteristics in patients with Williams syndrome.

Journal: Congenital anomalies

Published: April 27, 2018

Grix Blankenship Peterson Syndrome Latest Advances

Find the Latest Research About Grix Blankenship Peterson Syndrome

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

Floating-Harbor Syndrome: A Systematic Literature Review and Case Report.

Floating-Harbor Syndrome: A Systematic Literature Review and Case Report.

Surgical Management of Hip Dislocation in a Patient with SCARF Syndrome: A Case Report with a 6-Year Follow-up.

Surgical Management of Hip Dislocation in a Patient with SCARF Syndrome: A Case Report with a 6-Year Follow-up.

mef2ca and mef2cb Double Mutant Zebrafish Show Altered Craniofacial Phenotype and Motor Behaviour.

mef2ca and mef2cb Double Mutant Zebrafish Show Altered Craniofacial Phenotype and Motor Behaviour.

Repair of Protruding Bilateral Cleft Lip and Palate With Staged Premaxilla Setback Osteotomy, Cheiloplasty, and Palatoplasty in Trisomy 17p Patient: A Review of Syndromic Clinical Characteristic.

Repair of Protruding Bilateral Cleft Lip and Palate With Staged Premaxilla Setback Osteotomy, Cheiloplasty, and Palatoplasty in Trisomy 17p Patient: A Review of Syndromic Clinical Characteristic.

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.

Nervous system involvement in Pfeiffer syndrome.

Nervous system involvement in Pfeiffer syndrome.

Six-year follow-up of a survivor of cervical spine fracture and dislocation with oesophageal perforation following long scarf syndrome - a case report and literature review.

Six-year follow-up of a survivor of cervical spine fracture and dislocation with oesophageal perforation following long scarf syndrome - a case report and literature review.

Mid-trimester fetal facial dysmorphology associated with 2p25.3 microdeletion.

Mid-trimester fetal facial dysmorphology associated with 2p25.3 microdeletion.

Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome.

Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome.

Clinical and molecular spectrum of CHOPS syndrome.

Clinical and molecular spectrum of CHOPS syndrome.

Clinical study of dentocraniofacial characteristics in patients with Williams syndrome.

Clinical study of dentocraniofacial characteristics in patients with Williams syndrome.