SCOPUS 정보 검색 플랫폼

Volumn 173, Issue 7, 2014, Pages 967-969

Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: A second case report

(3) Lee, James a Wong, Stacey a,b Boles, Richard G a,b,c

a CHILDREN S HOSPITAL LOS ANGELES (United States)

b Courtagen Life Sciences Inc ^* (United States)

c UNIVERSITY OF SOUTHERN CALIFORNIA (United States)

Author keywords

Exome sequencing; Martin Probst; Mental retardation; RAB40AL; X linked

Indexed keywords

ADULT; ARTICLE; BODY TEMPERATURE DISORDER; CASE REPORT; CHORDEE; CONSTIPATION; CRANIOFACIAL MALFORMATION; CRYPTORCHISM; DYSAUTONOMIA; EVOKED AUDITORY RESPONSE; FACE DYSMORPHIA; GENE; GENE MUTATION; HUMAN; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; QUADRIPLEGIA; RAB40AL GENE; RECURRENCE RISK; SEIZURE; SHORT STATURE; SKIN COLOR; SPASTICITY; SPEECH DELAY; STRABISMUS; TACHYPNEA; UROGENITAL TRACT MALFORMATION; YOUNG ADULT; ABNORMALITIES, MULTIPLE; DEVELOPMENTAL DISORDER; GENETIC DISEASES, X-LINKED; GENETICS; HEARING LOSS, SENSORINEURAL; INTELLECTUAL DISABILITY; MUTATION;

MITOCHONDRIAL PROTEIN; RAS PROTEIN; RLGP PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; GENETIC DISEASES, X-LINKED; HEARING LOSS, SENSORINEURAL; HUMANS; INTELLECTUAL DISABILITY; MALE; MITOCHONDRIAL PROTEINS; MUTATION; RAS PROTEINS; UROGENITAL ABNORMALITIES; YOUNG ADULT;

EID: 84903816234 PISSN: 03406199 EISSN: 14321076 Source Type: Journal
DOI: 10.1007/s00431-014-2339-x Document Type: Article

Times cited : (6)

References (3)

1
- 84864094747
- Disruption of RAB40AL function leads to Martin-Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder
- Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, Martin DM (2012) Disruption of RAB40AL function leads to Martin-Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. J Med Genet 49(5):332-340
- (2012) J Med Genet , vol.49 , Issue.5 , pp. 332-340
- Bedoyan, J.K.¹ Schaibley, V.M.² Peng, W.³ Bai, Y.⁴ Mondal, K.⁵ Shetty, A.C.⁶ Durham, M.⁷ Micucci, J.A.⁸ Dhiraaj, A.⁹ Skidmore, J.M.¹⁰ Kaplan, J.B.¹¹ Skinner, C.¹² Schwartz, C.E.¹³ Antonellis, A.¹⁴ Zwick, M.E.¹⁵ Cavalcoli, J.D.¹⁶ Li, J.Z.¹⁷ Martin, D.M.¹⁸

2
- 0033747979
- Characterisation and genetic mapping of a new X-linked deafness syndrome
- Martin DM, Probst FJ, Camper SA, Petty EM (2000) Characterisation and genetic mapping of a new X-linked deafness syndrome. J Med Genet 37:836-841
- (2000) J Med Genet , vol.37 , pp. 836-841
- Martin, D.M.¹ Probst, F.J.² Camper, S.A.³ Petty, E.M.⁴

3
- 9744244247
- Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome
- Note: Erratum: Am. J. Med. Genet. 134: 347 only, 2005
- Probst FJ, Hedera P, Sclafani AM, Pomponi MG, Neri G, Tyson J, Douglas JA, Petty EM, Martin DM (2004) Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome. Am J Med Genet 131A:209-212, Note: Erratum: Am. J. Med. Genet. 134: 347 only, 2005
- (2004) Am J Med Genet , vol.131 A , pp. 209-212
- Probst, F.J.¹ Hedera, P.² Sclafani, A.M.³ Pomponi, M.G.⁴ Neri, G.⁵ Tyson, J.⁶ Douglas, J.A.⁷ Petty, E.M.⁸ Martin, D.M.⁹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.