Ambras syndrome: Report on two affected siblings with no prior family history

Clinical Dysmorphology

Volumn 13, Issue 4, 2004, Pages 265-267

  Belengeanu, Valerica ^a   Rozsnyai, Kinga ^a   Gug, Cristina ^a   Bǎnǎţeanu, Mariana ^b   Farcaş, Simona ^a   Belengeanu, Alina ^a  

^a VICTOR BABES UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^b Clinical Emergency County Hospital Pius Brinzeu Timisoara   (Romania)

Author keywords

Ambras syndrome; Congenital hypertrichosis; Germline mutation; Phenotypic variability

Indexed keywords

AMBRAS SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME MOSAICISM; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL MALFORMATION; FAMILY HISTORY; FEMALE; GENE; GENETIC ANALYSIS; GERM LINE; HUMAN; HYPERTRICHOSIS; MENTAL DEVELOPMENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; TESTOSTERONE BLOOD LEVEL; FACIES; GENETICS; INFANT; PATHOPHYSIOLOGY; RECESSIVE GENE;

CHILD, PRESCHOOL; FACIES; FEMALE; GENES, RECESSIVE; HUMANS; HYPERTRICHOSIS; INFANT;

EID: 16644376821     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200410000-00014     Document Type: Article

References (9)

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