Emanuel Syndrome (ES): new case-report and review of the literature.

Jancevska, S; Kitanovski, M; Laban, N; Danilovski, D; Tasic, V; Gucev, Z S

Jancevska, S; Kitanovski, M; Laban, N; Danilovski, D; Tasic, V; Gucev, Z S.

Affiliation

Jancevska S; University Clinics of Gynecology and Obstetrics, Medical Faculty, Skopje, R. Macedonia.
Kitanovski M; University Clinics of Gynecology and Obstetrics, Medical Faculty, Skopje, R. Macedonia.
Laban N; University Clinic for Endocrinology and Metabolic Diseases, Medical Faculty, Skopje, R. Macedonia.
Danilovski D; Institute of Epidemiology with Statistics and Medical Informatics, R. Macedonia.
Tasic V; University Children's Hospital, Medical Faculty, Skopje, R. Macedonia.
Gucev ZS; University Children's Hospital, Medical Faculty, Skopje, R. Macedonia.

Pril (Makedon Akad Nauk Umet Odd Med Nauki) ; 36(1): 205-8, 2015.

Article in En | MEDLINE | ID: mdl-26076791

Subject(s)

Abnormalities, Multiple/diagnosis; Chromosome Disorders/diagnosis; Cleft Palate/diagnosis; Craniofacial Abnormalities/diagnosis; Developmental Disabilities/diagnosis; Heart Defects, Congenital/diagnosis; Intellectual Disability/diagnosis; Muscle Hypotonia/diagnosis; Seizures/diagnosis; Abnormalities, Multiple/genetics; Child, Preschool; Chromosome Disorders/genetics; Chromosomes, Human, Pair 22/genetics; Cleft Palate/genetics; Craniofacial Abnormalities/genetics; Developmental Disabilities/genetics; Heart Defects, Congenital/genetics; Humans; Intellectual Disability/genetics; Karyotyping; Male; Muscle Hypotonia/genetics; Seizures/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Seizures / Abnormalities, Multiple / Developmental Disabilities / Cleft Palate / Craniofacial Abnormalities / Chromosome Disorders / Heart Defects, Congenital / Intellectual Disability / Muscle Hypotonia Limits: Child, preschool / Humans / Male Language: En Journal: Pril (Makedon Akad Nauk Umet Odd Med Nauki) Year: 2015 Type: Article

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