Detalhe da pesquisa
1.
CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vitreous: A case report and literature review.
Arch Soc Esp Oftalmol (Engl Ed)
; 97(1): 44-47, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027145
2.
CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vítreous: a case report and literature review. / Mutación del gen CTNNB1 asociada a alteración del neurodesarrollo, microcefalia y persistencia del vítreo primario hiperplásico bilateral: reporte de un caso y revisión de la literatura.
Arch Soc Esp Oftalmol (Engl Ed)
; 2021 Feb 06.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-33563475
3.
[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]. / Descripcion fenotipica de 26 pacientes con sindrome de Ritscher-Schinzel (displasia craneo-cerebelo-cardiaca o sindrome 3C).
Rev Neurol
; 64(11): 481-488, 2017 Jun 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-28555453