Volpi S, Yamazaki Y, Brauer P, van Rooijen E, Hayashida A, Slavotinek A
J Exp Med. 2017; 214(3):623-637.
PMID: 28148688
PMC: 5339678.
DOI: 10.1084/jem.20161525.
McCann L, McPartland J, Barge D, Strain L, Bourn D, Calonje E
J Clin Immunol. 2013; 34(1):42-8.
PMID: 24217815
PMC: 7086599.
DOI: 10.1007/s10875-013-9962-6.
Nosaka T, Morita S, Kitamura H, Nakajima H, Shibata F, Morikawa Y
Mol Cell Biol. 2003; 23(8):2969-80.
PMID: 12665593
PMC: 152550.
DOI: 10.1128/MCB.23.8.2969-2980.2003.
Castriota-Scanderbeg A, Mingarelli R, Caramia G, Osimani P, Lachman R, Rimoin D
J Med Genet. 1997; 34(10):854-6.
PMID: 9350822
PMC: 1051096.
DOI: 10.1136/jmg.34.10.854.
Ichijima K, Yamabe H, Kobashi Y, Ogawa H, AKAISHI K
Virchows Arch A Pathol Anat Histol. 1981; 391(3):275-89.
PMID: 7281494
DOI: 10.1007/BF00709160.
Ellis--Van Creveld syndrome.
Suguna Bai N, Joseph T, Nair P
Indian J Pediatr. 1983; 50(403):227-9.
PMID: 6618581
DOI: 10.1007/BF02821448.
Selective defect of a T helper subpopulation in severe combined immunodeficiency.
BUSINCO L, Pandolfi F, Rossi P, Del Principe D, Fiorilli M, Quinti I
J Clin Immunol. 1981; 1(2):125-30.
PMID: 6460785
DOI: 10.1007/BF00915390.
Diagnosis of immunologic deficiency in childhood.
Edelson P
Calif Med. 1972; 116(4):19-24.
PMID: 5019089
PMC: 1518345.
Primary immunodeficiencies.
Bull World Health Organ. 1971; 45(1):125-42.
PMID: 5004396
PMC: 2427897.
Genetics of immunity deficiency syndromes.
Kay H
J Med Genet. 1970; 7(4):310-4.
PMID: 4925725
PMC: 1468946.
DOI: 10.1136/jmg.7.4.310.
Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias.
WIEDEMANN H, REMAGEN W, HIENZ H, GORLIN R, Maroteaux P
Z Kinderheilkd. 1974; 116(4):223-51.
PMID: 4825916
DOI: 10.1007/BF00436949.
Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers.
Say B, Barber N, Miller G, Grogg S
J Med Genet. 1986; 23(4):355-9.
PMID: 3746838
PMC: 1049705.
DOI: 10.1136/jmg.23.4.355.
Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome).
Pontz B, Zepp F, Stoss H
Eur J Pediatr. 1986; 145(5):428-34.
PMID: 3491758
DOI: 10.1007/BF00439254.
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.
Macdermot K, Winter R, Wigglesworth J, Strobel S
J Med Genet. 1991; 28(1):10-7.
PMID: 1999827
PMC: 1016741.
DOI: 10.1136/jmg.28.1.10.
Morphologic studies in the skeletal dysplasias.
Sillence D, Horton W, Rimoin D
Am J Pathol. 1979; 96(3):813-70.
PMID: 474720
PMC: 2042401.
T-lymphocyte differentiation in vitro in severe combined immunodeficiency. Defects of stem cells.
Pahwa R, Pahwa S, GOOD R
J Clin Invest. 1979; 64(6):1632-41.
PMID: 315416
PMC: 371317.
DOI: 10.1172/JCI109625.
