Cargando…

A novel missense mutation of NR5A1 c.46T>C (p.C16R) in a Chinese infant with ambiguous genitalia

Detalles Bibliográficos
Autores principales:	Zhang, Dan, Xin, Ying, Li, Ming-Yu, Meng, Ling-Zhe, Tong, Ya-Jie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295473/ https://www.ncbi.nlm.nih.gov/pubmed/34975071 http://dx.doi.org/10.4103/aja202185

Ejemplares similares

Ambiguous genitalia: two decades of experience
por: Al-Jurayyan, Nasir A. M.
Publicado: (2011)

Ring Chromosome 13 and Ambiguous Genitalia
por: Özsu, Elif, et al.
Publicado: (2014)

A Clinical Approach to Diagnosis of Ambiguous Genitalia
por: Khanna, Kashish, et al.
Publicado: (2019)

A Case with late onset of ambiguous genitalia
por: Gargari, Soraya Saleh, et al.
Publicado: (2017)

Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn
por: Losa, Ana, et al.
Publicado: (2023)

A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia
por: Ellaithi, M, et al.
Publicado: (2006)

RE: Ambiguous genitalia: two decades of experience
por: Al-Mendalawi, Mahmood D.
Publicado: (2011)

De morseir syndrome presenting as ambiguous genitalia
por: Thukral, Anubhav, et al.
Publicado: (2012)

A Neonate with X-linked Lissencephaly with Ambiguous Genitalia
por: Minocha, Priyanka, et al.
Publicado: (2017)

Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients
por: Al-Mutair, Angham, et al.
Publicado: (2004)

Frequency of Ambiguous Genitalia in 14,177 Newborns in Turkey
por: Aydin, Banu Kucukemre, et al.
Publicado: (2019)

Role of Transperineal Ultrasound (TPUS) in Children with Ambiguous Genitalia
por: Rangarajan, Krithika, et al.
Publicado: (2021)

Abstract 107: Klinefelter's syndrome presenting with ambiguous genitalia
por: George, Belinda, et al.
Publicado: (2022)

A rare case of congenital heart disease with ambiguous genitalia
por: Lingaiah, Kusuma, et al.
Publicado: (2010)

Management of a 3-year-old child with ambiguous genitalia
por: Kumar, Amarendra, et al.
Publicado: (2015)

SAT-294 A Case of Turner Syndrome with Ambiguous Genitalia
por: Rodriguez Barreto, Ana Maria, et al.
Publicado: (2019)

Continent cutaneous diversion and external genitalia reconstruction in a child with severe variety urogenital sinus and ambiguous genitalia
por: Khemchandani, Sajni I.
Publicado: (2015)

Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia
por: Al Jabri, Aida, et al.
Publicado: (2021)

Case report: Coexistence of Jacobs syndrome, congenital adrenal hyperplasia, and ambiguous genitalia in a male infant
por: Khan, Qaisar Ali, et al.
Publicado: (2023)

A newborn with ambiguous genitalia and a complex X;Y rearrangement
por: Dehghani, Mohammadreza, et al.
Publicado: (2014)

Ambiguous genitalia–A social dilemma in Bangladesh: A case report
por: Chowdhury, Mohiuddin Ahsanul Kabir, et al.
Publicado: (2017)

CONGENITAL BATHING TRUNK NEVUS WITH AMBIGUOUS GENITALIA: A RARE COINCIDENCE
por: Basanti, Devi, et al.
Publicado: (2009)

A germ cell tumor in a patient with swyer syndrome with ambiguous genitalia
por: Kulathilake, Dharshana Tharanga, et al.
Publicado: (2015)

A Case Report on Ambiguous Genitalia: A Diagnostic, Therapeutic, and Cosmetic Challenge
por: Agarwal, Mukta, et al.
Publicado: (2023)

Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia – A Case Report
por: Boia, E.S., et al.
Publicado: (2014)

Persistent Urogenital Sinus with Ambiguous Genitalia and Urethral Duplication in a Pubertal Female
por: Kumar, Sunil, et al.
Publicado: (2022)

What Term to Choose: Ambiguous Genitalia or Disorders of Sex Development (DSD)?
por: Acimi, Smail
Publicado: (2019)

A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay
por: Ozantürk, Ayşegül, et al.
Publicado: (2016)

A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report
por: Zhang, Dan, et al.
Publicado: (2023)

Diabetic fetopathy associated with bilateral adrenal hyperplasia and ambiguous genitalia: a case report
por: Tantbirojn, Patou, et al.
Publicado: (2008)

Klaviersonaten Nr. 19 & 46
por: Haydn, Joseph, 1732-1809
Publicado: (1992)

From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia
por: Yost, McKenna, et al.
Publicado: (2023)

MON-360 Genital Reconstruction for Ambiguous Genitalia: A Case Report on Congenital Adrenal Hyperplasia
por: Ching, Cheryl May, et al.
Publicado: (2019)

Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report
por: Ali, Mahamudu Ayamba, et al.
Publicado: (2021)

Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
por: Sato, Takeshi, et al.
Publicado: (2021)

NR2C in the Thalamic Reticular Nucleus; Effects of the NR2C Knockout
por: Zhang, Yuchun, et al.
Publicado: (2012)

Mutational Analysis of Androgen Receptor (AR) Gene in 46,XY Patients with Ambiguous Genitalia and Normal Testosterone Secretion: Endocrinological Characteristics of Three Patients with AR Gene Mutations
por: Miyamoto, Junko, et al.
Publicado: (2006)

A child with hypertension and ambiguous genitalia – an uncommon variant of congenital adrenal hyperplasia: a case report
por: Pant, Vivek, et al.
Publicado: (2017)

Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study
por: Bougnères, Pierre, et al.
Publicado: (2017)

A Case with Preterm Ovarian Hyperstimulation Syndrome: The Importance of the Physical Examination in Differential Diagnosis of Ambiguous Genitalia
por: Anık, Ayşe, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_9anro6m206nov6h8aei06v90or