9714015 |
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred
Lachman, RS,
Krakow, D,
Faiyaz Ul Haque, M,
Ahmad, W,
Cohn, DH,
Haque, S,
Abbas, H,
Ahmad, M,
Rimoin, DL
|
Am. J. Med. Genet. |
1998 |
22791835 |
PAPSS2 mutations cause autosomal recessive brachyolmia
Miyake, N,
Iida, A,
Elcioglu, NH,
Takamura, K,
Hasegawa, T,
Nagai, T,
Matsumoto, N,
Dai, J,
Ohashi, H,
Kim, OH,
Murakami, N,
Ikegawa, S,
Isguven, P,
Nishimura, G,
Cho, TJ
|
J. Med. Genet. |
2012 |
19474428 |
Inactivating PAPSS2 mutations in a patient with premature pubarche
Sweep, FC,
Arlt, W,
Schlereth, F,
Krone, N,
Claahsen-van der Grinten, HL,
Smeets, R,
McNelis, JC,
Dhir, V,
Smeitink, JA,
Hanley, NA,
Noordam, C
|
N. Engl. J. Med. |
2009 |