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Clinical Dysmorphology

Volumn 24, Issue 1, 2015, Pages 24-25

Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome

(2) Eker, Hatice Koçak a Balasar, Özgür a

a Section of Pediatric Surgery (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ANUS ATRESIA; ARTICLE; CASE REPORT; CESAREAN SECTION; CHILD; CHRONIC KIDNEY FAILURE; EAR DYSPLASIA; ECHOGRAPHY; FAMILY; FLEXION CONTRACTURE; HAND RADIOGRAPHY; HEARING IMPAIRMENT; HUMAN; HYPERTENSION; KARYOTYPE; KIDNEY AGENESIS; KIDNEY DISEASE; KIDNEY SCINTISCANNING; MALE; MENTAL DEFICIENCY; MICROTIA; PHENOTYPIC VARIATION; PRESCHOOL CHILD; THUMB MALFORMATION; TOWNES BROCKS SYNDROME; ADULT; CONGENITAL MALFORMATION; FEMALE; KIDNEY; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOLOGY; PERCEPTION DEAFNESS; THUMB;

ABNORMALITIES, MULTIPLE; ADULT; ANUS, IMPERFORATE; CHILD, PRESCHOOL; FAMILY; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT, NEWBORN; KIDNEY; MALE; THUMB;

EID: 84917734670 PISSN: 09628827 EISSN: 14735717 Source Type: Journal
DOI: 10.1097/MCD.0000000000000054 Document Type: Article

Times cited : (6)

References (6)

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2
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- The townes-brocks syndrome in Spain: The epidemiological aspects in a consecutive series of cases
- Martinez-Frias ML, Bermeju Sanchez E, Arroyo Carrera I, Pérez Fernández JL, Pardo Romero M, Burón Martínez E, et al. (1999). The Townes-Brocks syndrome in Spain: the epidemiological aspects in a consecutive series of cases. An Esp Pediatr 50:57-60.
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3
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- SALL1, the gene mutated in townes-brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin
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4
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5
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6
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.