And Kidney Dysplasia-Hypoplasia Cleft Palate-Cryptorchidism Ear-Eye Anomalies Hirschsprung Disease Skeletal Malformations Ectodermal Dysplasia Retardation Brain Anomalies

Also Known As:

Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia; Bresek Syndrome; Bresheck Syndrome

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Experts

1.	Billheimer, Jeffrey: 1 article (01/2022)
2.	Cardinale, Christopher J: 1 article (01/2022)
3.	Copelovitch, Lawrence: 1 article (01/2022)
4.	Hakonarson, Hakon: 1 article (01/2022)
5.	Hou, Cuiping: 1 article (01/2022)
6.	Kim, Sophia E: 1 article (01/2022)
7.	Larosa, Christopher: 1 article (01/2022)
8.	March, Michael E: 1 article (01/2022)
9.	Merves, Jamie: 1 article (01/2022)
10.	Raffini, Leslie: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to And Kidney Dysplasia-Hypoplasia Cleft Palate-Cryptorchidism Ear-Eye Anomalies Hirschsprung Disease Skeletal Malformations Ectodermal Dysplasia Retardation Brain Anomalies:

1.	SterolsIBA 01/01/2022 - "A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response."
2.	Proteins (Proteins, Gene)FDA Link 11/01/2013 - "We report a 5 months-old male patient with the p.R429H mutation in MBTPS2 protein, which has been reported to be associated with the most severe phenotype of patients with IFAP/BRESHECK syndrome. "