TWIST2 is the cause of ablepharon macrostomia and barber say syndromes: reascertainment of two cases lost to follow-up as keys to solving these conditions (2015)
- Authors:
- Autor USP: FERRAZ, VICTOR EVANGELISTA DE FARIA - FMRP
- Unidade: FMRP
- Subjects: MACROSTOMIA; DOENÇAS GENÉTICAS
- Language: Inglês
- Imprenta:
- Source:
- Título: Poster Abstracts
- Conference titles: Annual Meeting of the American Society of Human Genetics
-
ABNT
MARKELLO, T. et al. TWIST2 is the cause of ablepharon macrostomia and barber say syndromes: reascertainment of two cases lost to follow-up as keys to solving these conditions. 2015, Anais.. Baltimore: ASHG, 2015. . Acesso em: 29 dez. 2025. -
APA
Markello, T., Marchegiani, S., Davis, T., Tessadori, F., van Haaften, G., Brancati, F., et al. (2015). TWIST2 is the cause of ablepharon macrostomia and barber say syndromes: reascertainment of two cases lost to follow-up as keys to solving these conditions. In Poster Abstracts. Baltimore: ASHG. -
NLM
Markello T, Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Pusey B, Wolfe L, Tifft C, Ferraz VE de F, Roche N, Ramos F, Malicdan M, Boerkoel C, Gahl WA, Vries B de, van Haelst M, Zenker M. TWIST2 is the cause of ablepharon macrostomia and barber say syndromes: reascertainment of two cases lost to follow-up as keys to solving these conditions. Poster Abstracts. 2015 ;[citado 2025 dez. 29 ] -
Vancouver
Markello T, Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Pusey B, Wolfe L, Tifft C, Ferraz VE de F, Roche N, Ramos F, Malicdan M, Boerkoel C, Gahl WA, Vries B de, van Haelst M, Zenker M. TWIST2 is the cause of ablepharon macrostomia and barber say syndromes: reascertainment of two cases lost to follow-up as keys to solving these conditions. Poster Abstracts. 2015 ;[citado 2025 dez. 29 ] - Aspectos genético-clínicos e laboratoriais na síndrome de Prader Willi
- Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis ?
- Ablepharon macrostomia syndrome: a distinct genetic entity clinically related to the group of FRAS–FREM complex disorders
- Radiografia do ensino de genética médica nas Universidades Federais do Brasil
- Importance of genetic cancer risk assessment as a strategy to stratify risk and provide precision prevention in high-risk patients and families. [Editorial]
- Aconselhamento genético em doenças oculares hereditárias
- Percepção de risco de recorrência em glaucoma congênito
- Análise da casuística de câncer colorretal sem polipose do ambulatório de aconselhamento genético em câncer do HC-FMRP-USP
- Relato de caso: glaucoma congênito com anomalias múltiplas
- Mucopolysaccharidoses in Brazil: what happens from birth until biochemical diagnosis ?
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
