Lubs syndrome

Also Known As:

Pseudohermaphroditism, Incomplete Male, Type I; Rosewater syndrome; Type I familial incomplete male pseudohermaphroditism

Networked: 2 relevant articles (0 outcomes, 1 trials/studies)

1.	Brain Diseases (Brain Disorder)

1.	Barros-Núñez, Patricio: 1 article (07/2013)
2.	Córdova-Fletes, Carlos: 1 article (07/2013)
3.	Neira, Vivian Alejandra: 1 article (07/2013)
4.	Ortiz-López, Rocío: 1 article (07/2013)
5.	Plaja, Alberto: 1 article (07/2013)
6.	Rojas-Martínez, Augusto: 1 article (07/2013)
7.	Romero-Espinoza, Pavel: 1 article (07/2013)
8.	Antiñolo, Guillermo: 1 article (09/2010)
9.	Borrego, Salud: 1 article (09/2010)
10.	Fernández, Raquel M: 1 article (09/2010)

Drugs and Important Biological Agents (IBA) related to Lubs syndrome:

1.	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 09/22/2010 - "In this study we present a new clinical association of severe neonatal encephalopathy (Lubs syndrome) and HSCR, in a male patient carrying a duplication at the Xq28 region which encompasses the MECP2 and L1CAM genes. " 09/22/2010 - "While the encephalopathy has been traditionally attributed to the MECP2 gene duplication in patients with Lubs syndrome, here we propose that the enteric phenotype in our patient might be due to the dosage variation of the L1CAM protein, together with additional molecular events not identified yet. "
2.	Proteins (Proteins, Gene)FDA Link 09/22/2010 - "While the encephalopathy has been traditionally attributed to the MECP2 gene duplication in patients with Lubs syndrome, here we propose that the enteric phenotype in our patient might be due to the dosage variation of the L1CAM protein, together with additional molecular events not identified yet. "
3.	Genetic Markers (Genetic Marker)IBA 07/25/2013 - "De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features."